Canonical Allele Identifier: CA7267331

Gene: ABCD4

Linked Data

• ClinVar Variation Id: 372930
• ClinVar RCV Id: RCV000414128 ; RCV001034174 ; RCV002523924
• dbSNP Id: rs147446660
• ExAC: 14:74766869 C / G
• gnomAD v2: 14-74766869-C-G
• gnomAD v3: 14-74300166-C-G
• gnomAD v4: 14-74300166-C-G
• MyVariant Identifiers: chr14:g.74766869C>G (hg19) ; chr14:g.74300166C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74300166C>G , CM000676.2:g.74300166C>G	GRCh38
NC_000014.8:g.74766869C>G , CM000676.1:g.74766869C>G	GRCh37
NC_000014.7:g.73836622C>G	NCBI36
NG_032875.1:g.7899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356924.9:c.141G>C MANE Select	ENSP00000349396.4:p.Leu47Phe
ENST00000356924.8:c.141G>C	ENSP00000349396.4:p.Leu47Phe
ENST00000460308.6:c.141G>C	ENSP00000436527.2:p.Leu47Phe
ENST00000469672.5:c.39-491G>C	ENSP00000434626.1:n.39-491G>C
ENST00000470637.1:c.141G>C	ENSP00000432630.1:p.Leu47Phe
ENST00000475240.5:n.163G>C
ENST00000477803.5:n.216G>C
ENST00000481935.5:c.141G>C	ENSP00000436782.1:p.Leu47Phe
ENST00000489207.1:n.226G>C
ENST00000493427.1:n.122-491G>C
ENST00000493752.5:n.205G>C
ENST00000553486.5:c.141G>C	ENSP00000450611.1:p.Leu47Phe
ENST00000553745.5:c.39-491G>C	ENSP00000451778.1:n.39-491G>C
ENST00000554453.5:c.141G>C	ENSP00000451457.1:p.Leu47Phe
ENST00000555617.5:c.39-491G>C	ENSP00000451521.1:n.39-491G>C
ENST00000556119.5:c.39-491G>C	ENSP00000450491.1:n.39-491G>C
ENST00000556971.1:c.37-491G>C
ENST00000557554.5:n.226G>C
ENST00000557588.5:c.141G>C	ENSP00000451993.1:p.Leu47Phe
NM_005050.3:c.141G>C	NP_005041.1:p.Leu47Phe
NR_003256.2:n.293G>C
XM_005267938.3:c.141G>C	XP_005267995.1:p.Leu47Phe
XM_005267939.2:c.-269G>C	XP_005267996.1:n.-269G>C
XM_005267940.2:c.-252-491G>C	XP_005267997.1:n.-252-491G>C
XM_005267941.3:c.-141G>C	XP_005267998.1:n.-141G>C
XM_005267942.3:c.-124-2097G>C	XP_005267999.1:n.-124-2097G>C
XM_005267946.2:c.-192-2097G>C	XP_005268003.1:n.-192-2097G>C
XM_005267949.2:c.-197G>C	XP_005268006.1:n.-197G>C
XM_006720223.1:c.-104-491G>C	XP_006720286.1:n.-104-491G>C
XM_011537041.1:c.141G>C	XP_011535343.1:p.Leu47Phe
XM_011537042.1:c.-69G>C	XP_011535344.1:n.-69G>C
XR_245710.2:n.226G>C
XR_943500.1:n.226G>C
NM_001353591.1:c.141G>C	NP_001340520.1:p.Leu47Phe
NM_001353592.1:c.141G>C	NP_001340521.1:p.Leu47Phe
NM_001353593.1:c.-104-491G>C	NP_001340522.1:n.-104-491G>C
NM_001353594.1:c.-104-491G>C	NP_001340523.1:n.-104-491G>C
NM_001353595.1:c.-269G>C	NP_001340524.1:n.-269G>C
NM_001353596.1:c.-141G>C	NP_001340525.1:n.-141G>C
NM_001353597.1:c.-141G>C	NP_001340526.1:n.-141G>C
NM_001353598.1:c.-192-2097G>C	NP_001340527.1:n.-192-2097G>C
NM_001353599.1:c.-197G>C	NP_001340528.1:n.-197G>C
NM_001353600.1:c.-209G>C	NP_001340529.1:n.-209G>C
NM_001353601.1:c.-69G>C	NP_001340530.1:n.-69G>C
NM_001353602.1:c.-549G>C	NP_001340531.1:n.-549G>C
NM_001353603.1:c.-426G>C	NP_001340532.1:n.-426G>C
NM_001353604.1:c.-286G>C	NP_001340533.1:n.-286G>C
NM_001353605.1:c.-554G>C	NP_001340534.1:n.-554G>C
NM_001353606.1:c.-426G>C	NP_001340535.1:n.-426G>C
NM_001353607.1:c.-409-2097G>C	NP_001340536.1:n.-409-2097G>C
NM_001353608.1:c.-409G>C	NP_001340537.1:n.-409G>C
NM_001353609.1:c.-554G>C	NP_001340538.1:n.-554G>C
NM_001353610.1:c.-554G>C	NP_001340539.1:n.-554G>C
NM_020324.2:c.-197G>C	NP_064720.1:n.-197G>C
NM_020325.2:c.141G>C	NP_064730.1:p.Leu47Phe
NR_148466.1:n.293G>C
NR_148467.1:n.293G>C
NR_148468.1:n.191-2097G>C
NR_148469.1:n.293G>C
NR_148470.1:n.293G>C
NR_148471.1:n.293G>C
NR_148472.1:n.293G>C
NR_148473.1:n.191-491G>C
NR_148474.1:n.293G>C
XM_005267940.3:c.-252-491G>C	XP_005267997.1:n.-252-491G>C
XM_005267942.4:c.-124-2097G>C	XP_005267999.1:n.-124-2097G>C
XM_011537041.2:c.141G>C	XP_011535343.1:p.Leu47Phe
XM_017021531.2:c.141G>C	XP_016877020.1:p.Leu47Phe
XM_017021534.1:c.-327G>C	XP_016877023.1:n.-327G>C
XM_017021539.1:c.-421G>C	XP_016877028.1:n.-421G>C
XM_017021540.2:c.-397-491G>C	XP_016877029.1:n.-397-491G>C
XM_017021541.2:c.-428G>C	XP_016877030.1:n.-428G>C
XM_017021542.1:c.-271-491G>C	XP_016877031.1:n.-271-491G>C
XM_024449675.1:c.-104-491G>C	XP_024305443.1:n.-104-491G>C
XM_024449676.1:c.-180-491G>C	XP_024305444.1:n.-180-491G>C
XM_024449677.1:c.-69G>C	XP_024305445.1:n.-69G>C
XM_024449678.1:c.-414G>C	XP_024305446.1:n.-414G>C
XM_024449679.1:c.-411-491G>C	XP_024305447.1:n.-411-491G>C
XR_001750476.2:n.216G>C
XR_001750478.2:n.216G>C
XR_001750480.2:n.216G>C
XR_001750481.2:n.216G>C
XR_001750482.1:n.291G>C
XR_001750484.1:n.224G>C
XR_002957565.1:n.205G>C
XR_245710.4:n.216G>C
XR_943500.3:n.216G>C
NM_005050.4:c.141G>C MANE Select	NP_005041.1:p.Leu47Phe
NM_001353591.2:c.141G>C	NP_001340520.1:p.Leu47Phe
NM_001353592.2:c.141G>C	NP_001340521.1:p.Leu47Phe
NM_001353593.2:c.-104-491G>C	NP_001340522.1:n.-104-491G>C
NM_001353594.2:c.-104-491G>C	NP_001340523.1:n.-104-491G>C
NM_001353595.2:c.-269G>C	NP_001340524.1:n.-269G>C
NM_001353596.2:c.-141G>C	NP_001340525.1:n.-141G>C
NM_001353597.2:c.-141G>C	NP_001340526.1:n.-141G>C
NM_001353598.2:c.-192-2097G>C	NP_001340527.1:n.-192-2097G>C
NM_001353599.2:c.-197G>C	NP_001340528.1:n.-197G>C
NM_001353600.2:c.-209G>C	NP_001340529.1:n.-209G>C
NM_001353601.2:c.-69G>C	NP_001340530.1:n.-69G>C
NM_001353602.2:c.-549G>C	NP_001340531.1:n.-549G>C
NM_001353603.2:c.-426G>C	NP_001340532.1:n.-426G>C
NM_001353604.2:c.-286G>C	NP_001340533.1:n.-286G>C
NM_001353605.2:c.-554G>C	NP_001340534.1:n.-554G>C
NM_001353606.2:c.-426G>C	NP_001340535.1:n.-426G>C
NM_001353607.2:c.-409-2097G>C	NP_001340536.1:n.-409-2097G>C
NM_001353608.2:c.-409G>C	NP_001340537.1:n.-409G>C
NM_001353609.2:c.-554G>C	NP_001340538.1:n.-554G>C
NM_001353610.2:c.-554G>C	NP_001340539.1:n.-554G>C
NM_020324.3:c.-197G>C	NP_064720.1:n.-197G>C
NM_020325.3:c.141G>C	NP_064730.1:p.Leu47Phe
NR_003256.3:n.163G>C
NR_148466.2:n.163G>C
NR_148467.2:n.163G>C
NR_148468.2:n.61-2097G>C
NR_148469.2:n.163G>C
NR_148470.2:n.163G>C
NR_148471.2:n.163G>C
NR_148472.2:n.163G>C
NR_148473.2:n.61-491G>C
NR_148474.2:n.163G>C