Canonical Allele Identifier: CA1315404113

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189006414G= , CM000664.2:g.189006414G=	GRCh38
NC_000002.11:g.189871140G= , CM000664.1:g.189871140G=	GRCh37
NC_000002.10:g.189579385G=	NCBI36
NG_007404.1:g.37042G= , LRG_3:g.37042G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3064G=	ENSP00000415346.2:p.Val1022=
ENST00000304636.9:c.3163G= MANE Select	ENSP00000304408.4:p.Val1055=
ENST00000304636.7:c.3163G=	ENSP00000304408.3:p.Val1055=
ENST00000317840.9:c.2528-1640G=	ENSP00000315243.6:n.2528-1640G=
NM_000090.3:c.3163G= , LRG_3t1:c.3163G=	NP_000081.1:p.Val1055=
NM_000090.4:c.3163G= MANE Select	NP_000081.2:p.Val1055=