Canonical Allele Identifier: CA430312567

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189870147T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189005421T>G , CM000664.2:g.189005421T>G	GRCh38
NC_000002.11:g.189870147T>G , CM000664.1:g.189870147T>G	GRCh37
NC_000002.10:g.189578392T>G	NCBI36
NG_007404.1:g.36049T>G , LRG_3:g.36049T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2904T>G	ENSP00000415346.2:p.Pro968=
ENST00000304636.9:c.3003T>G MANE Select	ENSP00000304408.4:p.Pro1001=
ENST00000304636.7:c.3003T>G	ENSP00000304408.3:p.Pro1001=
ENST00000317840.9:c.2527+2385T>G	ENSP00000315243.6:n.2527+2385T>G
NM_000090.3:c.3003T>G , LRG_3t1:c.3003T>G	NP_000081.1:p.Pro1001=
NM_000090.4:c.3003T>G MANE Select	NP_000081.2:p.Pro1001=