Canonical Allele Identifier: CA1315406312

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189010686T= , CM000664.2:g.189010686T=	GRCh38
NC_000002.11:g.189875412T= , CM000664.1:g.189875412T=	GRCh37
NC_000002.10:g.189583657T=	NCBI36
NG_007404.1:g.41314T= , LRG_3:g.41314T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.3951T=	ENSP00000415346.2:p.Leu1317=
ENST00000304636.9:c.4050T= MANE Select	ENSP00000304408.4:p.Leu1350=
ENST00000304636.7:c.4050T=	ENSP00000304408.3:p.Leu1350=
ENST00000317840.9:c.3141T=	ENSP00000315243.6:p.Leu1047=
ENST00000487010.1:n.1429T=
NM_000090.3:c.4050T= , LRG_3t1:c.4050T=	NP_000081.1:p.Leu1350=
NM_000090.4:c.4050T= MANE Select	NP_000081.2:p.Leu1350=