Canonical Allele Identifier: CA7267187

Gene: ABCD4

Linked Data

• ClinVar Variation Id: 280107
• ClinVar RCV Id: RCV000030861 ; RCV000373583
• dbSNP Id: rs769364566
• ExAC: 14:74763035 C / A
• gnomAD v2: 14-74763035-C-A
• gnomAD v3: 14-74296332-C-A
• gnomAD v4: 14-74296332-C-A
• MyVariant Identifiers: chr14:g.74763035C>A (hg19) ; chr14:g.74296332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74296332C>A , CM000676.2:g.74296332C>A	GRCh38
NC_000014.8:g.74763035C>A , CM000676.1:g.74763035C>A	GRCh37
NC_000014.7:g.73832788C>A	NCBI36
NG_032875.1:g.11733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356924.9:c.542+1G>T MANE Select	ENSP00000349396.4:n.542+1G>T
ENST00000356924.8:c.542+1G>T	ENSP00000349396.4:n.542+1G>T
ENST00000460308.6:c.*243+1G>T	ENSP00000436527.2:n.*243+1G>T
ENST00000469672.5:c.*163+1G>T	ENSP00000434626.1:n.*163+1G>T
ENST00000470637.1:c.*534+1G>T	ENSP00000432630.1:n.*534+1G>T
ENST00000475240.5:n.296+1G>T
ENST00000481935.5:c.*243+1G>T	ENSP00000436782.1:n.*243+1G>T
ENST00000489678.1:n.1737+1G>T
ENST00000553486.5:c.*243+1G>T	ENSP00000450611.1:n.*243+1G>T
ENST00000553745.5:c.*303+1G>T	ENSP00000451778.1:n.*303+1G>T
ENST00000554453.5:c.274+1G>T	ENSP00000451457.1:n.274+1G>T
ENST00000555617.5:c.*163+1G>T	ENSP00000451521.1:n.*163+1G>T
ENST00000556119.5:c.*163+1G>T	ENSP00000450491.1:n.*163+1G>T
ENST00000556971.1:c.421+1G>T
ENST00000557554.5:n.370+3216G>T
ENST00000557588.5:c.542+1G>T	ENSP00000451993.1:n.542+1G>T
NM_005050.3:c.542+1G>T	NP_005041.1:n.542+1G>T
NR_003256.2:n.566+1G>T
XM_005267938.3:c.542+1G>T	XP_005267995.1:n.542+1G>T
XM_005267939.2:c.133+1G>T	XP_005267996.1:n.133+1G>T
XM_005267940.2:c.133+1G>T	XP_005267997.1:n.133+1G>T
XM_005267941.3:c.133+1G>T	XP_005267998.1:n.133+1G>T
XM_005267942.3:c.133+1G>T	XP_005267999.1:n.133+1G>T
XM_005267946.2:c.65+1G>T	XP_005268003.1:n.65+1G>T
XM_005267949.2:c.65+1G>T	XP_005268006.1:n.65+1G>T
XM_005267953.2:c.-148+1G>T	XP_005268010.1:n.-148+1G>T
XM_006720223.1:c.281+1G>T	XP_006720286.1:n.281+1G>T
XM_011537041.1:c.274+1G>T	XP_011535343.1:n.274+1G>T
XM_011537042.1:c.65+1G>T	XP_011535344.1:n.65+1G>T
XM_011537043.1:c.-153+1G>T	XP_011535345.1:n.-153+1G>T
XR_245710.2:n.627+1G>T
XR_943500.1:n.627+1G>T
NM_001353591.1:c.542+1G>T	NP_001340520.1:n.542+1G>T
NM_001353592.1:c.542+1G>T	NP_001340521.1:n.542+1G>T
NM_001353593.1:c.281+1G>T	NP_001340522.1:n.281+1G>T
NM_001353594.1:c.281+1G>T	NP_001340523.1:n.281+1G>T
NM_001353595.1:c.133+1G>T	NP_001340524.1:n.133+1G>T
NM_001353596.1:c.133+1G>T	NP_001340525.1:n.133+1G>T
NM_001353597.1:c.133+1G>T	NP_001340526.1:n.133+1G>T
NM_001353598.1:c.65+1G>T	NP_001340527.1:n.65+1G>T
NM_001353599.1:c.65+1G>T	NP_001340528.1:n.65+1G>T
NM_001353600.1:c.65+1G>T	NP_001340529.1:n.65+1G>T
NM_001353601.1:c.65+1G>T	NP_001340530.1:n.65+1G>T
NM_001353602.1:c.-148+1G>T	NP_001340531.1:n.-148+1G>T
NM_001353603.1:c.-153+1G>T	NP_001340532.1:n.-153+1G>T
NM_001353604.1:c.-153+1G>T	NP_001340533.1:n.-153+1G>T
NM_001353605.1:c.-153+1G>T	NP_001340534.1:n.-153+1G>T
NM_001353606.1:c.-153+1G>T	NP_001340535.1:n.-153+1G>T
NM_001353607.1:c.-153+1G>T	NP_001340536.1:n.-153+1G>T
NM_001353608.1:c.-148+1G>T	NP_001340537.1:n.-148+1G>T
NM_001353609.1:c.-153+1G>T	NP_001340538.1:n.-153+1G>T
NM_001353610.1:c.-153+1G>T	NP_001340539.1:n.-153+1G>T
NM_020324.2:c.65+1G>T	NP_064720.1:n.65+1G>T
NM_020325.2:c.542+1G>T	NP_064730.1:n.542+1G>T
NR_148466.1:n.694+1G>T
NR_148467.1:n.426+1G>T
NR_148468.1:n.447+1G>T
NR_148469.1:n.694+1G>T
NR_148470.1:n.566+1G>T
NR_148471.1:n.694+1G>T
NR_148472.1:n.648+1G>T
NR_148473.1:n.575+1G>T
NR_148474.1:n.694+1G>T
XM_005267940.3:c.133+1G>T	XP_005267997.1:n.133+1G>T
XM_005267942.4:c.133+1G>T	XP_005267999.1:n.133+1G>T
XM_011537041.2:c.274+1G>T	XP_011535343.1:n.274+1G>T
XM_017021531.2:c.542+1G>T	XP_016877020.1:n.542+1G>T
XM_017021534.1:c.-66+1G>T	XP_016877023.1:n.-66+1G>T
XM_017021539.1:c.-148+1G>T	XP_016877028.1:n.-148+1G>T
XM_017021540.2:c.-153+1G>T	XP_016877029.1:n.-153+1G>T
XM_017021541.2:c.-27+1G>T	XP_016877030.1:n.-27+1G>T
XM_017021542.1:c.-27+1G>T	XP_016877031.1:n.-27+1G>T
XM_024449675.1:c.281+1G>T	XP_024305443.1:n.281+1G>T
XM_024449676.1:c.65+1G>T	XP_024305444.1:n.65+1G>T
XM_024449677.1:c.65+1G>T	XP_024305445.1:n.65+1G>T
XM_024449678.1:c.-153+1G>T	XP_024305446.1:n.-153+1G>T
XM_024449679.1:c.-27+1G>T	XP_024305447.1:n.-27+1G>T
XR_001750476.2:n.617+1G>T
XR_001750478.2:n.617+1G>T
XR_001750480.2:n.617+1G>T
XR_001750481.2:n.617+1G>T
XR_001750482.1:n.552+1G>T
XR_001750484.1:n.497+1G>T
XR_002957565.1:n.606+1G>T
XR_245710.4:n.617+1G>T
XR_943500.3:n.617+1G>T
NM_005050.4:c.542+1G>T MANE Select	NP_005041.1:n.542+1G>T
NM_001353591.2:c.542+1G>T	NP_001340520.1:n.542+1G>T
NM_001353592.2:c.542+1G>T	NP_001340521.1:n.542+1G>T
NM_001353593.2:c.281+1G>T	NP_001340522.1:n.281+1G>T
NM_001353594.2:c.281+1G>T	NP_001340523.1:n.281+1G>T
NM_001353595.2:c.133+1G>T	NP_001340524.1:n.133+1G>T
NM_001353596.2:c.133+1G>T	NP_001340525.1:n.133+1G>T
NM_001353597.2:c.133+1G>T	NP_001340526.1:n.133+1G>T
NM_001353598.2:c.65+1G>T	NP_001340527.1:n.65+1G>T
NM_001353599.2:c.65+1G>T	NP_001340528.1:n.65+1G>T
NM_001353600.2:c.65+1G>T	NP_001340529.1:n.65+1G>T
NM_001353601.2:c.65+1G>T	NP_001340530.1:n.65+1G>T
NM_001353602.2:c.-148+1G>T	NP_001340531.1:n.-148+1G>T
NM_001353603.2:c.-153+1G>T	NP_001340532.1:n.-153+1G>T
NM_001353604.2:c.-153+1G>T	NP_001340533.1:n.-153+1G>T
NM_001353605.2:c.-153+1G>T	NP_001340534.1:n.-153+1G>T
NM_001353606.2:c.-153+1G>T	NP_001340535.1:n.-153+1G>T
NM_001353607.2:c.-153+1G>T	NP_001340536.1:n.-153+1G>T
NM_001353608.2:c.-148+1G>T	NP_001340537.1:n.-148+1G>T
NM_001353609.2:c.-153+1G>T	NP_001340538.1:n.-153+1G>T
NM_001353610.2:c.-153+1G>T	NP_001340539.1:n.-153+1G>T
NM_020324.3:c.65+1G>T	NP_064720.1:n.65+1G>T
NM_020325.3:c.542+1G>T	NP_064730.1:n.542+1G>T
NR_003256.3:n.436+1G>T
NR_148466.2:n.564+1G>T
NR_148467.2:n.296+1G>T
NR_148468.2:n.317+1G>T
NR_148469.2:n.564+1G>T
NR_148470.2:n.436+1G>T
NR_148471.2:n.564+1G>T
NR_148472.2:n.518+1G>T
NR_148473.2:n.445+1G>T
NR_148474.2:n.564+1G>T