Canonical Allele Identifier: CA2112009701
Community Standard Title: NM_005845.5(ABCC4):c.3609G= (p.Ala1203=)
Gene: ABCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95044286C= , CM000675.2:g.95044286C= GRCh38
NC_000013.10:g.95696540C= , CM000675.1:g.95696540C= GRCh37
NC_000013.9:g.94494541C= NCBI36
NG_050651.1:g.262161G=
NG_050651.2:g.262161G=

Transcript Alleles

HGVS Amino-acid Change
NM_005845.5:c.3609G= MANE Select NP_005836.2:p.Ala1203=
ENST00000645237.2:c.3609G= MANE Select ENSP00000494609.1:p.Ala1203=
NM_001301829.1:c.3468G= NP_001288758.1:p.Ala1156=
NM_001301829.2:c.3468G= NP_001288758.1:p.Ala1156=
NM_005845.4:c.3609G= NP_005836.2:p.Ala1203=
ENST00000376887.8:c.3609G= ENSP00000366084.4:p.Ala1203=
ENST00000471041.1:n.493G=
ENST00000471041.2:n.479G=
ENST00000484109.1:n.44G=
ENST00000643051.1:c.*1520G= ENSP00000495513.1:n.*1520G=
ENST00000643842.1:c.*3655G= ENSP00000493861.1:n.*3655G=
ENST00000646439.1:c.3468G= ENSP00000494751.1:p.Ala1156=
XM_005254025.2:c.3480G= XP_005254082.1:p.Ala1160=
XM_006719914.1:c.3519G= XP_006719977.1:p.Ala1173=
XM_011521047.1:c.3060G= XP_011519349.1:p.Ala1020=
XM_017020319.1:c.3480G= XP_016875808.1:p.Ala1160=
XM_017020321.1:c.2094G= XP_016875810.1:p.Ala698=