Canonical Allele Identifier: CA1387973505
Gene: COL8A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.99762695G= , CM000665.2:g.99762695G= GRCh38
NC_000003.11:g.99481539G= , CM000665.1:g.99481539G= GRCh37
NC_000003.10:g.100964229G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000652472.1:c.-4+17674G= MANE Select ENSP00000498483.1:n.-4+17674G=
ENST00000261037.7:c.-4+17674G= ENSP00000261037.3:n.-4+17674G=
ENST00000273342.8:c.-4+17674G= ENSP00000273342.3:n.-4+17674G=
ENST00000452013.5:c.-4+17674G= ENSP00000387589.1:n.-4+17674G=
ENST00000621757.1:c.-4+17674G= ENSP00000482679.1:n.-4+17674G=
NM_001850.4:c.-4+17674G= NP_001841.2:n.-4+17674G=
NM_020351.3:c.-4+17674G= NP_065084.2:n.-4+17674G=
NM_020351.4:c.-4+17674G= MANE Select NP_065084.2:n.-4+17674G=
NM_001850.5:c.-4+17674G= NP_001841.2:n.-4+17674G=