Canonical Allele Identifier: CA349846630

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189873680C>G (hg19) ; chr2:g.189008954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008954C>G , CM000664.2:g.189008954C>G	GRCh38
NC_000002.11:g.189873680C>G , CM000664.1:g.189873680C>G	GRCh37
NC_000002.10:g.189581925C>G	NCBI36
NG_007404.1:g.39582C>G , LRG_3:g.39582C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3457C>G	ENSP00000415346.2:p.Pro1153Ala
ENST00000304636.9:c.3556C>G MANE Select	ENSP00000304408.4:p.Pro1186Ala
ENST00000304636.7:c.3556C>G	ENSP00000304408.3:p.Pro1186Ala
ENST00000317840.9:c.2647C>G	ENSP00000315243.6:p.Pro883Ala
ENST00000487010.1:n.653C>G
NM_000090.3:c.3556C>G , LRG_3t1:c.3556C>G	NP_000081.1:p.Pro1186Ala
NM_000090.4:c.3556C>G MANE Select	NP_000081.2:p.Pro1186Ala