Canonical Allele Identifier: CA388403030

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95839088A>C (hg19) ; chr13:g.95186834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186834A>C , CM000675.2:g.95186834A>C	GRCh38
NC_000013.10:g.95839088A>C , CM000675.1:g.95839088A>C	GRCh37
NC_000013.9:g.94637089A>C	NCBI36
NG_050651.1:g.119613T>G
NG_050651.2:g.119613T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1445T>G	ENSP00000493766.1:n.*1445T>G
ENST00000643051.1:c.1412T>G	ENSP00000495513.1:p.Val471Gly
ENST00000643556.1:c.1553T>G	ENSP00000494938.1:n.1553T>G
ENST00000643816.1:n.1695T>G
ENST00000643842.1:c.*1458T>G	ENSP00000493861.1:n.*1458T>G
ENST00000644471.1:n.1508T>G
ENST00000645237.2:c.1412T>G MANE Select	ENSP00000494609.1:p.Val471Gly
ENST00000645532.1:c.1451T>G	ENSP00000494431.1:p.Val484Gly
ENST00000646439.1:c.1412T>G	ENSP00000494751.1:p.Val471Gly
ENST00000376887.8:c.1412T>G	ENSP00000366084.4:p.Val471Gly
ENST00000536256.3:c.1187T>G	ENSP00000442024.1:p.Val396Gly
ENST00000629385.1:c.1412T>G	ENSP00000487081.1:p.Val471Gly
NM_001105515.2:c.1412T>G	NP_001098985.1:p.Val471Gly
NM_001301829.1:c.1412T>G	NP_001288758.1:p.Val471Gly
NM_001301830.1:c.1187T>G	NP_001288759.1:p.Val396Gly
NM_005845.4:c.1412T>G	NP_005836.2:p.Val471Gly
XM_005254025.2:c.1283T>G	XP_005254082.1:p.Val428Gly
XM_006719914.1:c.1322T>G	XP_006719977.1:p.Val441Gly
XM_011521047.1:c.863T>G	XP_011519349.1:p.Val288Gly
XM_017020319.1:c.1283T>G	XP_016875808.1:p.Val428Gly
XM_017020320.2:c.1412T>G	XP_016875809.1:p.Val471Gly
XM_017020322.1:c.1283T>G	XP_016875811.1:p.Val428Gly
NM_001105515.3:c.1412T>G	NP_001098985.1:p.Val471Gly
NM_001301829.2:c.1412T>G	NP_001288758.1:p.Val471Gly
NM_001301830.2:c.1187T>G	NP_001288759.1:p.Val396Gly
NM_005845.5:c.1412T>G MANE Select	NP_005836.2:p.Val471Gly