Canonical Allele Identifier: CA959099329

Gene: ABCC4

Linked Data

• dbSNP Id: rs1455781519
• gnomAD v3: 13-95170986-G-T
• gnomAD v4: 13-95170986-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170986G>T , CM000675.2:g.95170986G>T	GRCh38
NC_000013.10:g.95823240G>T , CM000675.1:g.95823240G>T	GRCh37
NC_000013.9:g.94621241G>T	NCBI36
NG_050651.1:g.135461C>A
NG_050651.2:g.135461C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*1761-358C>A	ENSP00000493766.1:n.*1761-358C>A
ENST00000643051.1:c.1728-358C>A	ENSP00000495513.1:n.1728-358C>A
ENST00000643556.1:c.1869-358C>A	ENSP00000494938.1:n.1869-358C>A
ENST00000643816.1:n.2011-358C>A
ENST00000643842.1:c.*1774-358C>A	ENSP00000493861.1:n.*1774-358C>A
ENST00000644471.1:n.1819-358C>A
ENST00000645237.2:c.1728-358C>A MANE Select	ENSP00000494609.1:n.1728-358C>A
ENST00000645532.1:c.1767-358C>A	ENSP00000494431.1:n.1767-358C>A
ENST00000646439.1:c.1728-358C>A	ENSP00000494751.1:n.1728-358C>A
ENST00000376887.8:c.1728-358C>A	ENSP00000366084.4:n.1728-358C>A
ENST00000536256.3:c.1503-358C>A	ENSP00000442024.1:n.1503-358C>A
ENST00000629385.1:c.1728-358C>A	ENSP00000487081.1:n.1728-358C>A
NM_001105515.2:c.1728-358C>A	NP_001098985.1:n.1728-358C>A
NM_001301829.1:c.1728-358C>A	NP_001288758.1:n.1728-358C>A
NM_001301830.1:c.1503-358C>A	NP_001288759.1:n.1503-358C>A
NM_005845.4:c.1728-358C>A	NP_005836.2:n.1728-358C>A
XM_005254025.2:c.1599-358C>A	XP_005254082.1:n.1599-358C>A
XM_006719914.1:c.1638-358C>A	XP_006719977.1:n.1638-358C>A
XM_011521047.1:c.1179-358C>A	XP_011519349.1:n.1179-358C>A
XM_017020319.1:c.1599-358C>A	XP_016875808.1:n.1599-358C>A
XM_017020320.2:c.1728-358C>A	XP_016875809.1:n.1728-358C>A
XM_017020321.1:c.213-358C>A	XP_016875810.1:n.213-358C>A
XM_017020322.1:c.1599-358C>A	XP_016875811.1:n.1599-358C>A
NM_001105515.3:c.1728-358C>A	NP_001098985.1:n.1728-358C>A
NM_001301829.2:c.1728-358C>A	NP_001288758.1:n.1728-358C>A
NM_001301830.2:c.1503-358C>A	NP_001288759.1:n.1503-358C>A
NM_005845.5:c.1728-358C>A MANE Select	NP_005836.2:n.1728-358C>A