Canonical Allele Identifier: CA959109123

Gene: ABCC4

Linked Data

• dbSNP Id: rs1594258199
• gnomAD v3: 13-95186520-C-T
• gnomAD v4: 13-95186520-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186520C>T , CM000675.2:g.95186520C>T	GRCh38
NC_000013.10:g.95838774C>T , CM000675.1:g.95838774C>T	GRCh37
NC_000013.9:g.94636775C>T	NCBI36
NG_050651.1:g.119927G>A
NG_050651.2:g.119927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1578+181G>A	ENSP00000493766.1:n.*1578+181G>A
ENST00000643051.1:c.1545+181G>A	ENSP00000495513.1:n.1545+181G>A
ENST00000643556.1:c.1686+181G>A	ENSP00000494938.1:n.1686+181G>A
ENST00000643816.1:n.1828+181G>A
ENST00000643842.1:c.*1591+181G>A	ENSP00000493861.1:n.*1591+181G>A
ENST00000644471.1:n.1641+181G>A
ENST00000645237.2:c.1545+181G>A MANE Select	ENSP00000494609.1:n.1545+181G>A
ENST00000645532.1:c.1584+181G>A	ENSP00000494431.1:n.1584+181G>A
ENST00000646439.1:c.1545+181G>A	ENSP00000494751.1:n.1545+181G>A
ENST00000376887.8:c.1545+181G>A	ENSP00000366084.4:n.1545+181G>A
ENST00000536256.3:c.1320+181G>A	ENSP00000442024.1:n.1320+181G>A
ENST00000629385.1:c.1545+181G>A	ENSP00000487081.1:n.1545+181G>A
NM_001105515.2:c.1545+181G>A	NP_001098985.1:n.1545+181G>A
NM_001301829.1:c.1545+181G>A	NP_001288758.1:n.1545+181G>A
NM_001301830.1:c.1320+181G>A	NP_001288759.1:n.1320+181G>A
NM_005845.4:c.1545+181G>A	NP_005836.2:n.1545+181G>A
XM_005254025.2:c.1416+181G>A	XP_005254082.1:n.1416+181G>A
XM_006719914.1:c.1455+181G>A	XP_006719977.1:n.1455+181G>A
XM_011521047.1:c.996+181G>A	XP_011519349.1:n.996+181G>A
XM_017020319.1:c.1416+181G>A	XP_016875808.1:n.1416+181G>A
XM_017020320.2:c.1545+181G>A	XP_016875809.1:n.1545+181G>A
XM_017020321.1:c.-1011G>A	XP_016875810.1:n.-1011G>A
XM_017020322.1:c.1416+181G>A	XP_016875811.1:n.1416+181G>A
NM_001105515.3:c.1545+181G>A	NP_001098985.1:n.1545+181G>A
NM_001301829.2:c.1545+181G>A	NP_001288758.1:n.1545+181G>A
NM_001301830.2:c.1320+181G>A	NP_001288759.1:n.1320+181G>A
NM_005845.5:c.1545+181G>A MANE Select	NP_005836.2:n.1545+181G>A