Canonical Allele Identifier: CA1387934116
Gene: COL8A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.99677478G= , CM000665.2:g.99677478G= GRCh38
NC_000003.11:g.99396322G= , CM000665.1:g.99396322G= GRCh37
NC_000003.10:g.100879012G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000652472.1:c.-129+38814G= MANE Select ENSP00000498483.1:n.-129+38814G=
ENST00000261037.7:c.-129+1757G= ENSP00000261037.3:n.-129+1757G=
ENST00000273342.8:c.-129+38814G= ENSP00000273342.3:n.-129+38814G=
ENST00000452013.5:c.-129+38814G= ENSP00000387589.1:n.-129+38814G=
ENST00000463753.5:n.253-273G=
ENST00000474648.5:n.252+1757G=
ENST00000483969.5:n.252+1757G=
ENST00000621757.1:c.-298-13921G= ENSP00000482679.1:n.-298-13921G=
NM_001850.4:c.-129+1757G= NP_001841.2:n.-129+1757G=
NM_020351.3:c.-129+38814G= NP_065084.2:n.-129+38814G=
NM_020351.4:c.-129+38814G= MANE Select NP_065084.2:n.-129+38814G=
NM_001850.5:c.-129+1757G= NP_001841.2:n.-129+1757G=
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