Canonical Allele Identifier: CA544717704

Gene: COL8A1

Linked Data

• dbSNP Id: rs1469149228
• gnomAD v2: 3-99396190-T-C
• gnomAD v3: 3-99677346-T-C
• gnomAD v4: 3-99677346-T-C
• MyVariant Identifiers: chr3:g.99396190T>C (hg19) ; chr3:g.99677346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.99677346T>C , CM000665.2:g.99677346T>C	GRCh38
NC_000003.11:g.99396190T>C , CM000665.1:g.99396190T>C	GRCh37
NC_000003.10:g.100878880T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652472.1:c.-129+38682T>C MANE Select	ENSP00000498483.1:n.-129+38682T>C
ENST00000261037.7:c.-129+1625T>C	ENSP00000261037.3:n.-129+1625T>C
ENST00000273342.8:c.-129+38682T>C	ENSP00000273342.3:n.-129+38682T>C
ENST00000452013.5:c.-129+38682T>C	ENSP00000387589.1:n.-129+38682T>C
ENST00000463753.5:n.253-405T>C
ENST00000474648.5:n.252+1625T>C
ENST00000483969.5:n.252+1625T>C
ENST00000621757.1:c.-298-14053T>C	ENSP00000482679.1:n.-298-14053T>C
NM_001850.4:c.-129+1625T>C	NP_001841.2:n.-129+1625T>C
NM_020351.3:c.-129+38682T>C	NP_065084.2:n.-129+38682T>C
NM_020351.4:c.-129+38682T>C MANE Select	NP_065084.2:n.-129+38682T>C
NM_001850.5:c.-129+1625T>C	NP_001841.2:n.-129+1625T>C