Canonical Allele Identifier: CA80198022

Gene: COL8A1

Linked Data

• dbSNP Id: rs532317714
• gnomAD v2: 3-99396308-T-A
• gnomAD v3: 3-99677464-T-A
• gnomAD v4: 3-99677464-T-A
• MyVariant Identifiers: chr3:g.99396308T>A (hg19) ; chr3:g.99677464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.99677464T>A , CM000665.2:g.99677464T>A	GRCh38
NC_000003.11:g.99396308T>A , CM000665.1:g.99396308T>A	GRCh37
NC_000003.10:g.100878998T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652472.1:c.-129+38800T>A MANE Select	ENSP00000498483.1:n.-129+38800T>A
ENST00000261037.7:c.-129+1743T>A	ENSP00000261037.3:n.-129+1743T>A
ENST00000273342.8:c.-129+38800T>A	ENSP00000273342.3:n.-129+38800T>A
ENST00000452013.5:c.-129+38800T>A	ENSP00000387589.1:n.-129+38800T>A
ENST00000463753.5:n.253-287T>A
ENST00000474648.5:n.252+1743T>A
ENST00000483969.5:n.252+1743T>A
ENST00000621757.1:c.-298-13935T>A	ENSP00000482679.1:n.-298-13935T>A
NM_001850.4:c.-129+1743T>A	NP_001841.2:n.-129+1743T>A
NM_020351.3:c.-129+38800T>A	NP_065084.2:n.-129+38800T>A
NM_020351.4:c.-129+38800T>A MANE Select	NP_065084.2:n.-129+38800T>A
NM_001850.5:c.-129+1743T>A	NP_001841.2:n.-129+1743T>A