Canonical Allele Identifier: CA7019537

Gene: ABCC4

Linked Data

• dbSNP Id: rs778273161
• ExAC: 13:95839113 C / T
• gnomAD v2: 13-95839113-C-T
• gnomAD v3: 13-95186859-C-T
• gnomAD v4: 13-95186859-C-T
• MyVariant Identifiers: chr13:g.95839113C>T (hg19) ; chr13:g.95186859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186859C>T , CM000675.2:g.95186859C>T	GRCh38
NC_000013.10:g.95839113C>T , CM000675.1:g.95839113C>T	GRCh37
NC_000013.9:g.94637114C>T	NCBI36
NG_050651.1:g.119588G>A
NG_050651.2:g.119588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1420G>A	ENSP00000493766.1:n.*1420G>A
ENST00000643051.1:c.1387G>A	ENSP00000495513.1:p.Ala463Thr
ENST00000643556.1:c.1528G>A	ENSP00000494938.1:n.1528G>A
ENST00000643816.1:n.1670G>A
ENST00000643842.1:c.*1433G>A	ENSP00000493861.1:n.*1433G>A
ENST00000644471.1:n.1483G>A
ENST00000645237.2:c.1387G>A MANE Select	ENSP00000494609.1:p.Ala463Thr
ENST00000645532.1:c.1426G>A	ENSP00000494431.1:p.Ala476Thr
ENST00000646439.1:c.1387G>A	ENSP00000494751.1:p.Ala463Thr
ENST00000376887.8:c.1387G>A	ENSP00000366084.4:p.Ala463Thr
ENST00000536256.3:c.1162G>A	ENSP00000442024.1:p.Ala388Thr
ENST00000629385.1:c.1387G>A	ENSP00000487081.1:p.Ala463Thr
NM_001105515.2:c.1387G>A	NP_001098985.1:p.Ala463Thr
NM_001301829.1:c.1387G>A	NP_001288758.1:p.Ala463Thr
NM_001301830.1:c.1162G>A	NP_001288759.1:p.Ala388Thr
NM_005845.4:c.1387G>A	NP_005836.2:p.Ala463Thr
XM_005254025.2:c.1258G>A	XP_005254082.1:p.Ala420Thr
XM_006719914.1:c.1297G>A	XP_006719977.1:p.Ala433Thr
XM_011521047.1:c.838G>A	XP_011519349.1:p.Ala280Thr
XM_017020319.1:c.1258G>A	XP_016875808.1:p.Ala420Thr
XM_017020320.2:c.1387G>A	XP_016875809.1:p.Ala463Thr
XM_017020322.1:c.1258G>A	XP_016875811.1:p.Ala420Thr
NM_001105515.3:c.1387G>A	NP_001098985.1:p.Ala463Thr
NM_001301829.2:c.1387G>A	NP_001288758.1:p.Ala463Thr
NM_001301830.2:c.1162G>A	NP_001288759.1:p.Ala388Thr
NM_005845.5:c.1387G>A MANE Select	NP_005836.2:p.Ala463Thr