Canonical Allele Identifier: CA254173307
Gene: ABCC4 HGNC NCBI

Linked Data

dbSNP Id: rs9561778

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95061461G>A , CM000675.2:g.95061461G>A GRCh38
NC_000013.10:g.95713715G>A , CM000675.1:g.95713715G>A GRCh37
NC_000013.9:g.94511716G>A NCBI36
NG_050651.1:g.244986C>T
NG_050651.2:g.244986C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643051.1:c.*991+1243C>T ENSP00000495513.1:p.=
ENST00000643842.1:c.*3412+1243C>T ENSP00000493861.1:p.=
ENST00000645237.2:c.3366+1243C>T MANE Select ENSP00000494609.1:p.=
ENST00000646439.1:c.3225+1243C>T ENSP00000494751.1:p.=
ENST00000376887.8:c.3366+1243C>T ENSP00000366084.4:p.=
NM_001301829.1:c.3225+1243C>T NP_001288758.1:p.=
NM_005845.4:c.3366+1243C>T NP_005836.2:p.=
XM_005254025.2:c.3237+1243C>T XP_005254082.1:p.=
XM_006719914.1:c.3276+1243C>T XP_006719977.1:p.=
XM_011521047.1:c.2817+1243C>T XP_011519349.1:p.=
XM_017020319.1:c.3237+1243C>T XP_016875808.1:p.=
XM_017020321.1:c.1851+1243C>T XP_016875810.1:p.=
NM_001301829.2:c.3225+1243C>T NP_001288758.1:p.=
NM_005845.5:c.3366+1243C>T MANE Select NP_005836.2:p.=