Canonical Allele Identifier: CA1051415115
Gene: COL8A1 HGNC NCBI

Linked Data

dbSNP Id: rs1938733731
gnomAD v3: 3-99677436-A-G
gnomAD v4: 3-99677436-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.99677436A>G , CM000665.2:g.99677436A>G GRCh38
NC_000003.11:g.99396280A>G , CM000665.1:g.99396280A>G GRCh37
NC_000003.10:g.100878970A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000652472.1:c.-129+38772A>G MANE Select ENSP00000498483.1:n.-129+38772A>G
ENST00000261037.7:c.-129+1715A>G ENSP00000261037.3:n.-129+1715A>G
ENST00000273342.8:c.-129+38772A>G ENSP00000273342.3:n.-129+38772A>G
ENST00000452013.5:c.-129+38772A>G ENSP00000387589.1:n.-129+38772A>G
ENST00000463753.5:n.253-315A>G
ENST00000474648.5:n.252+1715A>G
ENST00000483969.5:n.252+1715A>G
ENST00000621757.1:c.-298-13963A>G ENSP00000482679.1:n.-298-13963A>G
NM_001850.4:c.-129+1715A>G NP_001841.2:n.-129+1715A>G
NM_020351.3:c.-129+38772A>G NP_065084.2:n.-129+38772A>G
NM_020351.4:c.-129+38772A>G MANE Select NP_065084.2:n.-129+38772A>G
NM_001850.5:c.-129+1715A>G NP_001841.2:n.-129+1715A>G
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