Canonical Allele Identifier: CA075897

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 404286
• ClinVar RCV Id: RCV000460511 ; RCV001805058 ; RCV002255381
• dbSNP Id: rs180938313
• ExAC: 2:189849956 G / A
• gnomAD v2: 2-189849956-G-A
• gnomAD v3: 2-188985230-G-A
• gnomAD v4: 2-188985230-G-A
• MyVariant Identifiers: chr2:g.189849956G>A (hg19) ; chr2:g.188985230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188985230G>A , CM000664.2:g.188985230G>A	GRCh38
NC_000002.11:g.189849956G>A , CM000664.1:g.189849956G>A	GRCh37
NC_000002.10:g.189558201G>A	NCBI36
NG_007404.1:g.15858G>A , LRG_3:g.15858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.316G>A	ENSP00000415346.2:p.Gly106Ser
ENST00000304636.9:c.316G>A MANE Select	ENSP00000304408.4:p.Gly106Ser
ENST00000304636.7:c.316G>A	ENSP00000304408.3:p.Gly106Ser
ENST00000317840.9:c.316G>A	ENSP00000315243.6:p.Gly106Ser
NM_000090.3:c.316G>A , LRG_3t1:c.316G>A	NP_000081.1:p.Gly106Ser
NM_000090.4:c.316G>A MANE Select	NP_000081.2:p.Gly106Ser