Canonical Allele Identifier: CA076788

Gene: COL3A1

Linked Data

• dbSNP Id: rs759468533
• ExAC: 2:189854224 T / G
• gnomAD v2: 2-189854224-T-G
• gnomAD v3: 2-188989498-T-G
• gnomAD v4: 2-188989498-T-G
• MyVariant Identifiers: chr2:g.189854224T>G (hg19) ; chr2:g.188989498T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989498T>G , CM000664.2:g.188989498T>G	GRCh38
NC_000002.11:g.189854224T>G , CM000664.1:g.189854224T>G	GRCh37
NC_000002.10:g.189562469T>G	NCBI36
NG_007404.1:g.20126T>G , LRG_3:g.20126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.690+49T>G	ENSP00000415346.2:n.690+49T>G
ENST00000304636.9:c.690+49T>G MANE Select	ENSP00000304408.4:n.690+49T>G
ENST00000304636.7:c.690+49T>G	ENSP00000304408.3:n.690+49T>G
ENST00000317840.9:c.690+49T>G	ENSP00000315243.6:n.690+49T>G
NM_000090.3:c.690+49T>G , LRG_3t1:c.690+49T>G	NP_000081.1:n.690+49T>G
NM_000090.4:c.690+49T>G MANE Select	NP_000081.2:n.690+49T>G