Canonical Allele Identifier: CA388400102

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95822791T>G (hg19) ; chr13:g.95170537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170537T>G , CM000675.2:g.95170537T>G	GRCh38
NC_000013.10:g.95822791T>G , CM000675.1:g.95822791T>G	GRCh37
NC_000013.9:g.94620792T>G	NCBI36
NG_050651.1:g.135910A>C
NG_050651.2:g.135910A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1852A>C	ENSP00000493766.1:n.*1852A>C
ENST00000643051.1:c.1819A>C	ENSP00000495513.1:p.Lys607Gln
ENST00000643556.1:c.1960A>C	ENSP00000494938.1:n.1960A>C
ENST00000643816.1:n.2102A>C
ENST00000643842.1:c.*1865A>C	ENSP00000493861.1:n.*1865A>C
ENST00000644471.1:n.1910A>C
ENST00000645237.2:c.1819A>C MANE Select	ENSP00000494609.1:p.Lys607Gln
ENST00000645532.1:c.1858A>C	ENSP00000494431.1:p.Lys620Gln
ENST00000646439.1:c.1819A>C	ENSP00000494751.1:p.Lys607Gln
ENST00000376887.8:c.1819A>C	ENSP00000366084.4:p.Lys607Gln
ENST00000536256.3:c.1594A>C	ENSP00000442024.1:p.Lys532Gln
ENST00000629385.1:c.1819A>C	ENSP00000487081.1:p.Lys607Gln
NM_001105515.2:c.1819A>C	NP_001098985.1:p.Lys607Gln
NM_001301829.1:c.1819A>C	NP_001288758.1:p.Lys607Gln
NM_001301830.1:c.1594A>C	NP_001288759.1:p.Lys532Gln
NM_005845.4:c.1819A>C	NP_005836.2:p.Lys607Gln
XM_005254025.2:c.1690A>C	XP_005254082.1:p.Lys564Gln
XM_006719914.1:c.1729A>C	XP_006719977.1:p.Lys577Gln
XM_011521047.1:c.1270A>C	XP_011519349.1:p.Lys424Gln
XM_017020319.1:c.1690A>C	XP_016875808.1:p.Lys564Gln
XM_017020320.2:c.1819A>C	XP_016875809.1:p.Lys607Gln
XM_017020321.1:c.304A>C	XP_016875810.1:p.Lys102Gln
XM_017020322.1:c.1690A>C	XP_016875811.1:p.Lys564Gln
NM_001105515.3:c.1819A>C	NP_001098985.1:p.Lys607Gln
NM_001301829.2:c.1819A>C	NP_001288758.1:p.Lys607Gln
NM_001301830.2:c.1594A>C	NP_001288759.1:p.Lys532Gln
NM_005845.5:c.1819A>C MANE Select	NP_005836.2:p.Lys607Gln