Canonical Allele Identifier: CA349843776

Gene: COL3A1

Linked Data

• COSMIC: COSM4803854
• MyVariant Identifiers: chr2:g.189868734C>G (hg19) ; chr2:g.189004008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004008C>G , CM000664.2:g.189004008C>G	GRCh38
NC_000002.11:g.189868734C>G , CM000664.1:g.189868734C>G	GRCh37
NC_000002.10:g.189576979C>G	NCBI36
NG_007404.1:g.34636C>G , LRG_3:g.34636C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2589C>G	ENSP00000415346.2:p.Ser863Arg
ENST00000304636.9:c.2688C>G MANE Select	ENSP00000304408.4:p.Ser896Arg
ENST00000304636.7:c.2688C>G	ENSP00000304408.3:p.Ser896Arg
ENST00000317840.9:c.2527+972C>G	ENSP00000315243.6:n.2527+972C>G
NM_000090.3:c.2688C>G , LRG_3t1:c.2688C>G	NP_000081.1:p.Ser896Arg
NM_000090.4:c.2688C>G MANE Select	NP_000081.2:p.Ser896Arg