Canonical Allele Identifier: CA388400330

Gene: ABCC4

Linked Data

• dbSNP Id: rs1171184262
• gnomAD v2: 13-95822869-T-C
• gnomAD v4: 13-95170615-T-C
• MyVariant Identifiers: chr13:g.95822869T>C (hg19) ; chr13:g.95170615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170615T>C , CM000675.2:g.95170615T>C	GRCh38
NC_000013.10:g.95822869T>C , CM000675.1:g.95822869T>C	GRCh37
NC_000013.9:g.94620870T>C	NCBI36
NG_050651.1:g.135832A>G
NG_050651.2:g.135832A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1774A>G	ENSP00000493766.1:n.*1774A>G
ENST00000643051.1:c.1741A>G	ENSP00000495513.1:p.Ile581Val
ENST00000643556.1:c.1882A>G	ENSP00000494938.1:n.1882A>G
ENST00000643816.1:n.2024A>G
ENST00000643842.1:c.*1787A>G	ENSP00000493861.1:n.*1787A>G
ENST00000644471.1:n.1832A>G
ENST00000645237.2:c.1741A>G MANE Select	ENSP00000494609.1:p.Ile581Val
ENST00000645532.1:c.1780A>G	ENSP00000494431.1:p.Ile594Val
ENST00000646439.1:c.1741A>G	ENSP00000494751.1:p.Ile581Val
ENST00000376887.8:c.1741A>G	ENSP00000366084.4:p.Ile581Val
ENST00000536256.3:c.1516A>G	ENSP00000442024.1:p.Ile506Val
ENST00000629385.1:c.1741A>G	ENSP00000487081.1:p.Ile581Val
NM_001105515.2:c.1741A>G	NP_001098985.1:p.Ile581Val
NM_001301829.1:c.1741A>G	NP_001288758.1:p.Ile581Val
NM_001301830.1:c.1516A>G	NP_001288759.1:p.Ile506Val
NM_005845.4:c.1741A>G	NP_005836.2:p.Ile581Val
XM_005254025.2:c.1612A>G	XP_005254082.1:p.Ile538Val
XM_006719914.1:c.1651A>G	XP_006719977.1:p.Ile551Val
XM_011521047.1:c.1192A>G	XP_011519349.1:p.Ile398Val
XM_017020319.1:c.1612A>G	XP_016875808.1:p.Ile538Val
XM_017020320.2:c.1741A>G	XP_016875809.1:p.Ile581Val
XM_017020321.1:c.226A>G	XP_016875810.1:p.Ile76Val
XM_017020322.1:c.1612A>G	XP_016875811.1:p.Ile538Val
NM_001105515.3:c.1741A>G	NP_001098985.1:p.Ile581Val
NM_001301829.2:c.1741A>G	NP_001288758.1:p.Ile581Val
NM_001301830.2:c.1516A>G	NP_001288759.1:p.Ile506Val
NM_005845.5:c.1741A>G MANE Select	NP_005836.2:p.Ile581Val