Canonical Allele Identifier: CA349849247

Gene: COL3A1

Linked Data

• COSMIC: COSM3575437 ; COSM3575438
• MyVariant Identifiers: chr2:g.189875410C>T (hg19) ; chr2:g.189010684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189010684C>T , CM000664.2:g.189010684C>T	GRCh38
NC_000002.11:g.189875410C>T , CM000664.1:g.189875410C>T	GRCh37
NC_000002.10:g.189583655C>T	NCBI36
NG_007404.1:g.41312C>T , LRG_3:g.41312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3949C>T	ENSP00000415346.2:p.Leu1317Phe
ENST00000304636.9:c.4048C>T MANE Select	ENSP00000304408.4:p.Leu1350Phe
ENST00000304636.7:c.4048C>T	ENSP00000304408.3:p.Leu1350Phe
ENST00000317840.9:c.3139C>T	ENSP00000315243.6:p.Leu1047Phe
ENST00000487010.1:n.1427C>T
NM_000090.3:c.4048C>T , LRG_3t1:c.4048C>T	NP_000081.1:p.Leu1350Phe
NM_000090.4:c.4048C>T MANE Select	NP_000081.2:p.Leu1350Phe