Canonical Allele Identifier: CA7019542

Gene: ABCC4

Linked Data

• dbSNP Id: rs372840314
• ExAC: 13:95839129 G / A
• gnomAD v2: 13-95839129-G-A
• gnomAD v4: 13-95186875-G-A
• MyVariant Identifiers: chr13:g.95839129G>A (hg19) ; chr13:g.95186875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186875G>A , CM000675.2:g.95186875G>A	GRCh38
NC_000013.10:g.95839129G>A , CM000675.1:g.95839129G>A	GRCh37
NC_000013.9:g.94637130G>A	NCBI36
NG_050651.1:g.119572C>T
NG_050651.2:g.119572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1404C>T	ENSP00000493766.1:n.*1404C>T
ENST00000643051.1:c.1371C>T	ENSP00000495513.1:p.Ala457=
ENST00000643556.1:c.1512C>T	ENSP00000494938.1:n.1512C>T
ENST00000643816.1:n.1654C>T
ENST00000643842.1:c.*1417C>T	ENSP00000493861.1:n.*1417C>T
ENST00000644471.1:n.1467C>T
ENST00000645237.2:c.1371C>T MANE Select	ENSP00000494609.1:p.Ala457=
ENST00000645532.1:c.1410C>T	ENSP00000494431.1:p.Ala470=
ENST00000646439.1:c.1371C>T	ENSP00000494751.1:p.Ala457=
ENST00000376887.8:c.1371C>T	ENSP00000366084.4:p.Ala457=
ENST00000536256.3:c.1146C>T	ENSP00000442024.1:p.Ala382=
ENST00000629385.1:c.1371C>T	ENSP00000487081.1:p.Ala457=
NM_001105515.2:c.1371C>T	NP_001098985.1:p.Ala457=
NM_001301829.1:c.1371C>T	NP_001288758.1:p.Ala457=
NM_001301830.1:c.1146C>T	NP_001288759.1:p.Ala382=
NM_005845.4:c.1371C>T	NP_005836.2:p.Ala457=
XM_005254025.2:c.1242C>T	XP_005254082.1:p.Ala414=
XM_006719914.1:c.1281C>T	XP_006719977.1:p.Ala427=
XM_011521047.1:c.822C>T	XP_011519349.1:p.Ala274=
XM_017020319.1:c.1242C>T	XP_016875808.1:p.Ala414=
XM_017020320.2:c.1371C>T	XP_016875809.1:p.Ala457=
XM_017020322.1:c.1242C>T	XP_016875811.1:p.Ala414=
NM_001105515.3:c.1371C>T	NP_001098985.1:p.Ala457=
NM_001301829.2:c.1371C>T	NP_001288758.1:p.Ala457=
NM_001301830.2:c.1146C>T	NP_001288759.1:p.Ala382=
NM_005845.5:c.1371C>T MANE Select	NP_005836.2:p.Ala457=