Canonical Allele Identifier: CA913187962

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 925322
• ClinVar RCV Id: RCV001187197
• dbSNP Id: rs1688100177

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988077C>G , CM000664.2:g.188988077C>G	GRCh38
NC_000002.11:g.189852803C>G , CM000664.1:g.189852803C>G	GRCh37
NC_000002.10:g.189561048C>G	NCBI36
NG_007404.1:g.18705C>G , LRG_3:g.18705C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.529-4C>G	ENSP00000415346.2:n.529-4C>G
ENST00000304636.9:c.529-4C>G MANE Select	ENSP00000304408.4:n.529-4C>G
ENST00000304636.7:c.529-4C>G	ENSP00000304408.3:n.529-4C>G
ENST00000317840.9:c.529-4C>G	ENSP00000315243.6:n.529-4C>G
NM_000090.3:c.529-4C>G , LRG_3t1:c.529-4C>G	NP_000081.1:n.529-4C>G
NM_000090.4:c.529-4C>G MANE Select	NP_000081.2:n.529-4C>G