Canonical Allele Identifier: CA1051415124
Gene: COL8A1 HGNC NCBI

Linked Data

gnomAD v3: 3-99677479-G-A
gnomAD v4: 3-99677479-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.99677479G>A , CM000665.2:g.99677479G>A GRCh38
NC_000003.11:g.99396323G>A , CM000665.1:g.99396323G>A GRCh37
NC_000003.10:g.100879013G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000652472.1:c.-129+38815G>A MANE Select ENSP00000498483.1:n.-129+38815G>A
ENST00000261037.7:c.-129+1758G>A ENSP00000261037.3:n.-129+1758G>A
ENST00000273342.8:c.-129+38815G>A ENSP00000273342.3:n.-129+38815G>A
ENST00000452013.5:c.-129+38815G>A ENSP00000387589.1:n.-129+38815G>A
ENST00000463753.5:n.253-272G>A
ENST00000474648.5:n.252+1758G>A
ENST00000483969.5:n.252+1758G>A
ENST00000621757.1:c.-298-13920G>A ENSP00000482679.1:n.-298-13920G>A
NM_001850.4:c.-129+1758G>A NP_001841.2:n.-129+1758G>A
NM_020351.3:c.-129+38815G>A NP_065084.2:n.-129+38815G>A
NM_020351.4:c.-129+38815G>A MANE Select NP_065084.2:n.-129+38815G>A
NM_001850.5:c.-129+1758G>A NP_001841.2:n.-129+1758G>A
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