Canonical Allele Identifier: CA074843

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 459772
• ClinVar RCV Id: RCV000548065 ; RCV000780195 ; RCV003528190 ; RCV002461293 ; RCV002476117
• dbSNP Id: rs189846410
• ExAC: 2:189863040 G / A
• gnomAD v2: 2-189863040-G-A
• gnomAD v3: 2-188998314-G-A
• gnomAD v4: 2-188998314-G-A
• COSMIC: COSM268929 ; COSM5107363
• MyVariant Identifiers: chr2:g.189863040G>A (hg19) ; chr2:g.188998314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188998314G>A , CM000664.2:g.188998314G>A	GRCh38
NC_000002.11:g.189863040G>A , CM000664.1:g.189863040G>A	GRCh37
NC_000002.10:g.189571285G>A	NCBI36
NG_007404.1:g.28942G>A , LRG_3:g.28942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1873G>A	ENSP00000415346.2:p.Glu625Lys
ENST00000304636.9:c.1972G>A MANE Select	ENSP00000304408.4:p.Glu658Lys
ENST00000304636.7:c.1972G>A	ENSP00000304408.3:p.Glu658Lys
ENST00000317840.9:c.1972G>A	ENSP00000315243.6:p.Glu658Lys
NM_000090.3:c.1972G>A , LRG_3t1:c.1972G>A	NP_000081.1:p.Glu658Lys
NM_000090.4:c.1972G>A MANE Select	NP_000081.2:p.Glu658Lys