Canonical Allele Identifier: CA7266617

Gene: ABCD4

Linked Data

• ClinVar Variation Id: 376915
• ClinVar RCV Id: RCV000430645 ; RCV000487235 ; RCV001081993
• dbSNP Id: rs143288344
• ExAC: 14:74753420 C / T
• gnomAD v2: 14-74753420-C-T
• gnomAD v3: 14-74286717-C-T
• gnomAD v4: 14-74286717-C-T
• MyVariant Identifiers: chr14:g.74753420C>T (hg19) ; chr14:g.74286717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74286717C>T , CM000676.2:g.74286717C>T	GRCh38
NC_000014.8:g.74753420C>T , CM000676.1:g.74753420C>T	GRCh37
NC_000014.7:g.73823173C>T	NCBI36
NG_032875.1:g.21348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356924.9:c.1736G>A MANE Select	ENSP00000349396.4:p.Arg579Gln
ENST00000356924.8:c.1736G>A	ENSP00000349396.4:p.Arg579Gln
ENST00000465085.2:n.932G>A
ENST00000474270.1:c.787G>A
ENST00000481348.5:c.627G>A
ENST00000481935.5:c.*1437G>A	ENSP00000436782.1:n.*1437G>A
ENST00000553486.5:c.*1437G>A	ENSP00000450611.1:n.*1437G>A
ENST00000553745.5:c.*1446G>A	ENSP00000451778.1:n.*1446G>A
ENST00000555904.1:c.283G>A
ENST00000556517.1:c.627G>A
NM_005050.3:c.1736G>A	NP_005041.1:p.Arg579Gln
NR_003256.2:n.1760G>A
XM_005267939.2:c.1322G>A	XP_005267996.1:p.Arg441Gln
XM_005267940.2:c.1322G>A	XP_005267997.1:p.Arg441Gln
XM_005267941.3:c.1322G>A	XP_005267998.1:p.Arg441Gln
XM_005267942.3:c.1322G>A	XP_005267999.1:p.Arg441Gln
XM_005267946.2:c.1259G>A	XP_005268003.1:p.Arg420Gln
XM_005267949.2:c.1259G>A	XP_005268006.1:p.Arg420Gln
XM_005267953.2:c.947G>A	XP_005268010.1:p.Arg316Gln
XM_006720223.1:c.1475G>A	XP_006720286.1:p.Arg492Gln
XM_011537041.1:c.1463G>A	XP_011535343.1:p.Arg488Gln
XM_011537042.1:c.1259G>A	XP_011535344.1:p.Arg420Gln
XM_011537043.1:c.947G>A	XP_011535345.1:p.Arg316Gln
XR_245710.2:n.1729G>A
NM_001353591.1:c.1610G>A	NP_001340520.1:p.Arg537Gln
NM_001353592.1:c.1610G>A	NP_001340521.1:p.Arg537Gln
NM_001353593.1:c.1475G>A	NP_001340522.1:p.Arg492Gln
NM_001353594.1:c.1424G>A	NP_001340523.1:p.Arg475Gln
NM_001353595.1:c.1322G>A	NP_001340524.1:p.Arg441Gln
NM_001353596.1:c.1322G>A	NP_001340525.1:p.Arg441Gln
NM_001353597.1:c.1271G>A	NP_001340526.1:p.Arg424Gln
NM_001353598.1:c.1259G>A	NP_001340527.1:p.Arg420Gln
NM_001353599.1:c.1259G>A	NP_001340528.1:p.Arg420Gln
NM_001353600.1:c.1259G>A	NP_001340529.1:p.Arg420Gln
NM_001353601.1:c.1259G>A	NP_001340530.1:p.Arg420Gln
NM_001353602.1:c.947G>A	NP_001340531.1:p.Arg316Gln
NM_001353603.1:c.947G>A	NP_001340532.1:p.Arg316Gln
NM_001353604.1:c.947G>A	NP_001340533.1:p.Arg316Gln
NM_001353605.1:c.947G>A	NP_001340534.1:p.Arg316Gln
NM_001353606.1:c.947G>A	NP_001340535.1:p.Arg316Gln
NM_001353607.1:c.947G>A	NP_001340536.1:p.Arg316Gln
NM_001353608.1:c.947G>A	NP_001340537.1:p.Arg316Gln
NM_001353609.1:c.947G>A	NP_001340538.1:p.Arg316Gln
NM_001353610.1:c.*73G>A	NP_001340539.1:n.*73G>A
NM_020324.2:c.1259G>A	NP_064720.1:p.Arg420Gln
NM_020325.2:c.1736G>A	NP_064730.1:p.Arg579Gln
NR_148466.1:n.1696G>A
NR_148467.1:n.1477G>A
NR_148468.1:n.1454G>A
NR_148469.1:n.1701G>A
NR_148470.1:n.1663G>A
NR_148471.1:n.1701G>A
NR_148472.1:n.1750G>A
NR_148473.1:n.1677G>A
NR_148474.1:n.1796G>A
XM_005267940.3:c.1322G>A	XP_005267997.1:p.Arg441Gln
XM_005267942.4:c.1322G>A	XP_005267999.1:p.Arg441Gln
XM_011537041.2:c.1463G>A	XP_011535343.1:p.Arg488Gln
XM_017021531.2:c.*73G>A	XP_016877020.1:n.*73G>A
XM_017021534.1:c.1124G>A	XP_016877023.1:p.Arg375Gln
XM_017021539.1:c.947G>A	XP_016877028.1:p.Arg316Gln
XM_017021540.2:c.947G>A	XP_016877029.1:p.Arg316Gln
XM_017021541.2:c.947G>A	XP_016877030.1:p.Arg316Gln
XM_017021542.1:c.947G>A	XP_016877031.1:p.Arg316Gln
XM_024449675.1:c.1349G>A	XP_024305443.1:p.Arg450Gln
XM_024449676.1:c.1259G>A	XP_024305444.1:p.Arg420Gln
XM_024449677.1:c.1259G>A	XP_024305445.1:p.Arg420Gln
XM_024449678.1:c.947G>A	XP_024305446.1:p.Arg316Gln
XM_024449679.1:c.947G>A	XP_024305447.1:p.Arg316Gln
XR_001750476.2:n.1867G>A
XR_001750478.2:n.2239G>A
XR_001750480.2:n.1775G>A
XR_001750482.1:n.1802G>A
XR_001750484.1:n.2119G>A
XR_002957565.1:n.1761G>A
XR_245710.4:n.1719G>A
XR_943500.3:n.2331G>A
NM_005050.4:c.1736G>A MANE Select	NP_005041.1:p.Arg579Gln
NM_001353591.2:c.1610G>A	NP_001340520.1:p.Arg537Gln
NM_001353592.2:c.1610G>A	NP_001340521.1:p.Arg537Gln
NM_001353593.2:c.1475G>A	NP_001340522.1:p.Arg492Gln
NM_001353594.2:c.1424G>A	NP_001340523.1:p.Arg475Gln
NM_001353595.2:c.1322G>A	NP_001340524.1:p.Arg441Gln
NM_001353596.2:c.1322G>A	NP_001340525.1:p.Arg441Gln
NM_001353597.2:c.1271G>A	NP_001340526.1:p.Arg424Gln
NM_001353598.2:c.1259G>A	NP_001340527.1:p.Arg420Gln
NM_001353599.2:c.1259G>A	NP_001340528.1:p.Arg420Gln
NM_001353600.2:c.1259G>A	NP_001340529.1:p.Arg420Gln
NM_001353601.2:c.1259G>A	NP_001340530.1:p.Arg420Gln
NM_001353602.2:c.947G>A	NP_001340531.1:p.Arg316Gln
NM_001353603.2:c.947G>A	NP_001340532.1:p.Arg316Gln
NM_001353604.2:c.947G>A	NP_001340533.1:p.Arg316Gln
NM_001353605.2:c.947G>A	NP_001340534.1:p.Arg316Gln
NM_001353606.2:c.947G>A	NP_001340535.1:p.Arg316Gln
NM_001353607.2:c.947G>A	NP_001340536.1:p.Arg316Gln
NM_001353608.2:c.947G>A	NP_001340537.1:p.Arg316Gln
NM_001353609.2:c.947G>A	NP_001340538.1:p.Arg316Gln
NM_001353610.2:c.*73G>A	NP_001340539.1:n.*73G>A
NM_020324.3:c.1259G>A	NP_064720.1:p.Arg420Gln
NM_020325.3:c.1736G>A	NP_064730.1:p.Arg579Gln
NR_003256.3:n.1630G>A
NR_148466.2:n.1566G>A
NR_148467.2:n.1347G>A
NR_148468.2:n.1324G>A
NR_148469.2:n.1571G>A
NR_148470.2:n.1533G>A
NR_148471.2:n.1571G>A
NR_148472.2:n.1620G>A
NR_148473.2:n.1547G>A
NR_148474.2:n.1666G>A