Canonical Allele Identifier: CA484495057
Gene: ABCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.95863012G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95210758G>T , CM000675.2:g.95210758G>T GRCh38
NC_000013.10:g.95863012G>T , CM000675.1:g.95863012G>T GRCh37
NC_000013.9:g.94661013G>T NCBI36
NG_050651.1:g.95689C>A
NG_050651.2:g.95689C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642524.1:c.*588C>A ENSP00000493766.1:n.*588C>A
ENST00000643051.1:c.555C>A ENSP00000495513.1:p.Ala185=
ENST00000643556.1:c.696C>A ENSP00000494938.1:n.696C>A
ENST00000643816.1:n.838C>A
ENST00000643842.1:c.*601C>A ENSP00000493861.1:n.*601C>A
ENST00000644471.1:n.651C>A
ENST00000645237.2:c.555C>A MANE Select ENSP00000494609.1:p.Ala185=
ENST00000645532.1:c.594C>A ENSP00000494431.1:p.Ala198=
ENST00000646439.1:c.555C>A ENSP00000494751.1:p.Ala185=
ENST00000376887.8:c.555C>A ENSP00000366084.4:p.Ala185=
ENST00000536256.3:c.330C>A ENSP00000442024.1:p.Ala110=
ENST00000629385.1:c.555C>A ENSP00000487081.1:p.Ala185=
NM_001105515.2:c.555C>A NP_001098985.1:p.Ala185=
NM_001301829.1:c.555C>A NP_001288758.1:p.Ala185=
NM_001301830.1:c.330C>A NP_001288759.1:p.Ala110=
NM_005845.4:c.555C>A NP_005836.2:p.Ala185=
XM_005254025.2:c.426C>A XP_005254082.1:p.Ala142=
XM_006719914.1:c.555C>A XP_006719977.1:p.Ala185=
XM_011521047.1:c.6C>A XP_011519349.1:p.Ala2=
XM_017020319.1:c.426C>A XP_016875808.1:p.Ala142=
XM_017020320.2:c.555C>A XP_016875809.1:p.Ala185=
XM_017020322.1:c.426C>A XP_016875811.1:p.Ala142=
NM_001105515.3:c.555C>A NP_001098985.1:p.Ala185=
NM_001301829.2:c.555C>A NP_001288758.1:p.Ala185=
NM_001301830.2:c.330C>A NP_001288759.1:p.Ala110=
NM_005845.5:c.555C>A MANE Select NP_005836.2:p.Ala185=