Canonical Allele Identifier: CA7019784

Gene: ABCC4

Linked Data

• ClinVar Variation Id: 2510603
• ClinVar RCV Id: RCV003240069
• dbSNP Id: rs765169776
• ExAC: 13:95863028 C / T
• gnomAD v2: 13-95863028-C-T
• gnomAD v3: 13-95210774-C-T
• gnomAD v4: 13-95210774-C-T
• MyVariant Identifiers: chr13:g.95863028C>T (hg19) ; chr13:g.95210774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95210774C>T , CM000675.2:g.95210774C>T	GRCh38
NC_000013.10:g.95863028C>T , CM000675.1:g.95863028C>T	GRCh37
NC_000013.9:g.94661029C>T	NCBI36
NG_050651.1:g.95673G>A
NG_050651.2:g.95673G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*572G>A	ENSP00000493766.1:n.*572G>A
ENST00000643051.1:c.539G>A	ENSP00000495513.1:p.Arg180His
ENST00000643556.1:c.680G>A	ENSP00000494938.1:n.680G>A
ENST00000643816.1:n.822G>A
ENST00000643842.1:c.*585G>A	ENSP00000493861.1:n.*585G>A
ENST00000644471.1:n.635G>A
ENST00000645237.2:c.539G>A MANE Select	ENSP00000494609.1:p.Arg180His
ENST00000645532.1:c.578G>A	ENSP00000494431.1:p.Arg193His
ENST00000646439.1:c.539G>A	ENSP00000494751.1:p.Arg180His
ENST00000376887.8:c.539G>A	ENSP00000366084.4:p.Arg180His
ENST00000536256.3:c.314G>A	ENSP00000442024.1:p.Arg105His
ENST00000629385.1:c.539G>A	ENSP00000487081.1:p.Arg180His
NM_001105515.2:c.539G>A	NP_001098985.1:p.Arg180His
NM_001301829.1:c.539G>A	NP_001288758.1:p.Arg180His
NM_001301830.1:c.314G>A	NP_001288759.1:p.Arg105His
NM_005845.4:c.539G>A	NP_005836.2:p.Arg180His
XM_005254025.2:c.410G>A	XP_005254082.1:p.Arg137His
XM_006719914.1:c.539G>A	XP_006719977.1:p.Arg180His
XM_011521047.1:c.-11G>A	XP_011519349.1:n.-11G>A
XM_017020319.1:c.410G>A	XP_016875808.1:p.Arg137His
XM_017020320.2:c.539G>A	XP_016875809.1:p.Arg180His
XM_017020322.1:c.410G>A	XP_016875811.1:p.Arg137His
NM_001105515.3:c.539G>A	NP_001098985.1:p.Arg180His
NM_001301829.2:c.539G>A	NP_001288758.1:p.Arg180His
NM_001301830.2:c.314G>A	NP_001288759.1:p.Arg105His
NM_005845.5:c.539G>A MANE Select	NP_005836.2:p.Arg180His