Canonical Allele Identifier: CA004121

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199690
• ClinVar RCV Id: RCV000181046 ; RCV000355476 ; RCV000659410 ; RCV000766806 ; RCV001188677
• dbSNP Id: rs201380807
• ExAC: 2:189849525 C / T
• gnomAD v2: 2-189849525-C-T
• gnomAD v3: 2-188984799-C-T
• gnomAD v4: 2-188984799-C-T
• MyVariant Identifiers: chr2:g.189849525C>T (hg19) ; chr2:g.188984799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188984799C>T , CM000664.2:g.188984799C>T	GRCh38
NC_000002.11:g.189849525C>T , CM000664.1:g.189849525C>T	GRCh37
NC_000002.10:g.189557770C>T	NCBI36
NG_007404.1:g.15427C>T , LRG_3:g.15427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.119C>T	ENSP00000415346.2:p.Ala40Val
ENST00000304636.9:c.119C>T MANE Select	ENSP00000304408.4:p.Ala40Val
ENST00000304636.7:c.119C>T	ENSP00000304408.3:p.Ala40Val
ENST00000317840.9:c.119C>T	ENSP00000315243.6:p.Ala40Val
ENST00000470167.1:n.215C>T
NM_000090.3:c.119C>T , LRG_3t1:c.119C>T	NP_000081.1:p.Ala40Val
XR_923689.1:n.1G>A
NM_000090.4:c.119C>T MANE Select	NP_000081.2:p.Ala40Val