Canonical Allele Identifier: CA349848320

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189853320C>G (hg19) ; chr2:g.188988594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988594C>G , CM000664.2:g.188988594C>G	GRCh38
NC_000002.11:g.189853320C>G , CM000664.1:g.189853320C>G	GRCh37
NC_000002.10:g.189561565C>G	NCBI36
NG_007404.1:g.19222C>G , LRG_3:g.19222C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.587C>G	ENSP00000415346.2:p.Ser196Cys
ENST00000304636.9:c.587C>G MANE Select	ENSP00000304408.4:p.Ser196Cys
ENST00000304636.7:c.587C>G	ENSP00000304408.3:p.Ser196Cys
ENST00000317840.9:c.587C>G	ENSP00000315243.6:p.Ser196Cys
NM_000090.3:c.587C>G , LRG_3t1:c.587C>G	NP_000081.1:p.Ser196Cys
NM_000090.4:c.587C>G MANE Select	NP_000081.2:p.Ser196Cys