Canonical Allele Identifier: CA7019395

Gene: ABCC4

Linked Data

• dbSNP Id: rs765232727
• ExAC: 13:95822796 A / C
• gnomAD v2: 13-95822796-A-C
• gnomAD v4: 13-95170542-A-C
• MyVariant Identifiers: chr13:g.95822796A>C (hg19) ; chr13:g.95170542A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170542A>C , CM000675.2:g.95170542A>C	GRCh38
NC_000013.10:g.95822796A>C , CM000675.1:g.95822796A>C	GRCh37
NC_000013.9:g.94620797A>C	NCBI36
NG_050651.1:g.135905T>G
NG_050651.2:g.135905T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1847T>G	ENSP00000493766.1:n.*1847T>G
ENST00000643051.1:c.1814T>G	ENSP00000495513.1:p.Ile605Arg
ENST00000643556.1:c.1955T>G	ENSP00000494938.1:n.1955T>G
ENST00000643816.1:n.2097T>G
ENST00000643842.1:c.*1860T>G	ENSP00000493861.1:n.*1860T>G
ENST00000644471.1:n.1905T>G
ENST00000645237.2:c.1814T>G MANE Select	ENSP00000494609.1:p.Ile605Arg
ENST00000645532.1:c.1853T>G	ENSP00000494431.1:p.Ile618Arg
ENST00000646439.1:c.1814T>G	ENSP00000494751.1:p.Ile605Arg
ENST00000376887.8:c.1814T>G	ENSP00000366084.4:p.Ile605Arg
ENST00000536256.3:c.1589T>G	ENSP00000442024.1:p.Ile530Arg
ENST00000629385.1:c.1814T>G	ENSP00000487081.1:p.Ile605Arg
NM_001105515.2:c.1814T>G	NP_001098985.1:p.Ile605Arg
NM_001301829.1:c.1814T>G	NP_001288758.1:p.Ile605Arg
NM_001301830.1:c.1589T>G	NP_001288759.1:p.Ile530Arg
NM_005845.4:c.1814T>G	NP_005836.2:p.Ile605Arg
XM_005254025.2:c.1685T>G	XP_005254082.1:p.Ile562Arg
XM_006719914.1:c.1724T>G	XP_006719977.1:p.Ile575Arg
XM_011521047.1:c.1265T>G	XP_011519349.1:p.Ile422Arg
XM_017020319.1:c.1685T>G	XP_016875808.1:p.Ile562Arg
XM_017020320.2:c.1814T>G	XP_016875809.1:p.Ile605Arg
XM_017020321.1:c.299T>G	XP_016875810.1:p.Ile100Arg
XM_017020322.1:c.1685T>G	XP_016875811.1:p.Ile562Arg
NM_001105515.3:c.1814T>G	NP_001098985.1:p.Ile605Arg
NM_001301829.2:c.1814T>G	NP_001288758.1:p.Ile605Arg
NM_001301830.2:c.1589T>G	NP_001288759.1:p.Ile530Arg
NM_005845.5:c.1814T>G MANE Select	NP_005836.2:p.Ile605Arg