Canonical Allele Identifier: CA959124623
Gene: ABCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95245953A>T , CM000675.2:g.95245953A>T GRCh38
NC_000013.10:g.95898207A>T , CM000675.1:g.95898207A>T GRCh37
NC_000013.9:g.94696208A>T NCBI36
NG_050651.1:g.60494T>A
NG_050651.2:g.60494T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642524.1:c.*339+1022T>A ENSP00000493766.1:n.*339+1022T>A
ENST00000643051.1:c.306+1022T>A ENSP00000495513.1:n.306+1022T>A
ENST00000643556.1:c.447+1022T>A ENSP00000494938.1:n.447+1022T>A
ENST00000643816.1:n.589+1022T>A
ENST00000643842.1:c.*352+1022T>A ENSP00000493861.1:n.*352+1022T>A
ENST00000644471.1:n.402+1022T>A
ENST00000645237.2:c.306+1022T>A MANE Select ENSP00000494609.1:n.306+1022T>A
ENST00000645532.1:c.345+1022T>A ENSP00000494431.1:n.345+1022T>A
ENST00000646439.1:c.306+1022T>A ENSP00000494751.1:n.306+1022T>A
ENST00000376887.8:c.306+1022T>A ENSP00000366084.4:n.306+1022T>A
ENST00000536256.3:c.306+1022T>A ENSP00000442024.1:n.306+1022T>A
ENST00000629385.1:c.306+1022T>A ENSP00000487081.1:n.306+1022T>A
NM_001105515.2:c.306+1022T>A NP_001098985.1:n.306+1022T>A
NM_001301829.1:c.306+1022T>A NP_001288758.1:n.306+1022T>A
NM_001301830.1:c.306+1022T>A NP_001288759.1:n.306+1022T>A
NM_005845.4:c.306+1022T>A NP_005836.2:n.306+1022T>A
XM_005254025.2:c.177+1022T>A XP_005254082.1:n.177+1022T>A
XM_006719914.1:c.306+1022T>A XP_006719977.1:n.306+1022T>A
XM_017020319.1:c.177+1022T>A XP_016875808.1:n.177+1022T>A
XM_017020320.2:c.306+1022T>A XP_016875809.1:n.306+1022T>A
XM_017020322.1:c.177+1022T>A XP_016875811.1:n.177+1022T>A
NM_001105515.3:c.306+1022T>A NP_001098985.1:n.306+1022T>A
NM_001301829.2:c.306+1022T>A NP_001288758.1:n.306+1022T>A
NM_001301830.2:c.306+1022T>A NP_001288759.1:n.306+1022T>A
NM_005845.5:c.306+1022T>A MANE Select NP_005836.2:n.306+1022T>A