Canonical Allele Identifier: CA7019528

Gene: ABCC4

Linked Data

• dbSNP Id: rs764076680
• ExAC: 13:95839070 T / C
• gnomAD v2: 13-95839070-T-C
• gnomAD v3: 13-95186816-T-C
• gnomAD v4: 13-95186816-T-C
• MyVariant Identifiers: chr13:g.95839070T>C (hg19) ; chr13:g.95186816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186816T>C , CM000675.2:g.95186816T>C	GRCh38
NC_000013.10:g.95839070T>C , CM000675.1:g.95839070T>C	GRCh37
NC_000013.9:g.94637071T>C	NCBI36
NG_050651.1:g.119631A>G
NG_050651.2:g.119631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1463A>G	ENSP00000493766.1:n.*1463A>G
ENST00000643051.1:c.1430A>G	ENSP00000495513.1:p.Tyr477Cys
ENST00000643556.1:c.1571A>G	ENSP00000494938.1:n.1571A>G
ENST00000643816.1:n.1713A>G
ENST00000643842.1:c.*1476A>G	ENSP00000493861.1:n.*1476A>G
ENST00000644471.1:n.1526A>G
ENST00000645237.2:c.1430A>G MANE Select	ENSP00000494609.1:p.Tyr477Cys
ENST00000645532.1:c.1469A>G	ENSP00000494431.1:p.Tyr490Cys
ENST00000646439.1:c.1430A>G	ENSP00000494751.1:p.Tyr477Cys
ENST00000376887.8:c.1430A>G	ENSP00000366084.4:p.Tyr477Cys
ENST00000536256.3:c.1205A>G	ENSP00000442024.1:p.Tyr402Cys
ENST00000629385.1:c.1430A>G	ENSP00000487081.1:p.Tyr477Cys
NM_001105515.2:c.1430A>G	NP_001098985.1:p.Tyr477Cys
NM_001301829.1:c.1430A>G	NP_001288758.1:p.Tyr477Cys
NM_001301830.1:c.1205A>G	NP_001288759.1:p.Tyr402Cys
NM_005845.4:c.1430A>G	NP_005836.2:p.Tyr477Cys
XM_005254025.2:c.1301A>G	XP_005254082.1:p.Tyr434Cys
XM_006719914.1:c.1340A>G	XP_006719977.1:p.Tyr447Cys
XM_011521047.1:c.881A>G	XP_011519349.1:p.Tyr294Cys
XM_017020319.1:c.1301A>G	XP_016875808.1:p.Tyr434Cys
XM_017020320.2:c.1430A>G	XP_016875809.1:p.Tyr477Cys
XM_017020322.1:c.1301A>G	XP_016875811.1:p.Tyr434Cys
NM_001105515.3:c.1430A>G	NP_001098985.1:p.Tyr477Cys
NM_001301829.2:c.1430A>G	NP_001288758.1:p.Tyr477Cys
NM_001301830.2:c.1205A>G	NP_001288759.1:p.Tyr402Cys
NM_005845.5:c.1430A>G MANE Select	NP_005836.2:p.Tyr477Cys