Canonical Allele Identifier: CA349844070

Gene: COL3A1

Linked Data

• dbSNP Id: rs1426365127
• gnomAD v4: 2-189004076-T-C
• MyVariant Identifiers: chr2:g.189868802T>C (hg19) ; chr2:g.189004076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004076T>C , CM000664.2:g.189004076T>C	GRCh38
NC_000002.11:g.189868802T>C , CM000664.1:g.189868802T>C	GRCh37
NC_000002.10:g.189577047T>C	NCBI36
NG_007404.1:g.34704T>C , LRG_3:g.34704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2657T>C	ENSP00000415346.2:p.Val886Ala
ENST00000304636.9:c.2756T>C MANE Select	ENSP00000304408.4:p.Val919Ala
ENST00000304636.7:c.2756T>C	ENSP00000304408.3:p.Val919Ala
ENST00000317840.9:c.2527+1040T>C	ENSP00000315243.6:n.2527+1040T>C
NM_000090.3:c.2756T>C , LRG_3t1:c.2756T>C	NP_000081.1:p.Val919Ala
NM_000090.4:c.2756T>C MANE Select	NP_000081.2:p.Val919Ala