Canonical Allele Identifier: CA1315398594
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994594C= , CM000664.2:g.188994594C= GRCh38
NC_000002.11:g.189859320C= , CM000664.1:g.189859320C= GRCh37
NC_000002.10:g.189567565C= NCBI36
NG_007404.1:g.25222C= , LRG_3:g.25222C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1248C= ENSP00000415346.2:p.Arg416=
ENST00000304636.9:c.1347C= MANE Select ENSP00000304408.4:p.Arg449=
ENST00000304636.7:c.1347C= ENSP00000304408.3:p.Arg449=
ENST00000317840.9:c.1347C= ENSP00000315243.6:p.Arg449=
NM_000090.3:c.1347C= , LRG_3t1:c.1347C= NP_000081.1:p.Arg449=
NM_000090.4:c.1347C= MANE Select NP_000081.2:p.Arg449=