Canonical Allele Identifier: CA1315403653
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005389G= , CM000664.2:g.189005389G= GRCh38
NC_000002.11:g.189870115G= , CM000664.1:g.189870115G= GRCh37
NC_000002.10:g.189578360G= NCBI36
NG_007404.1:g.36017G= , LRG_3:g.36017G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2872G= ENSP00000415346.2:p.Glu958=
ENST00000304636.9:c.2971G= MANE Select ENSP00000304408.4:p.Glu991=
ENST00000304636.7:c.2971G= ENSP00000304408.3:p.Glu991=
ENST00000317840.9:c.2527+2353G= ENSP00000315243.6:n.2527+2353G=
NM_000090.3:c.2971G= , LRG_3t1:c.2971G= NP_000081.1:p.Glu991=
NM_000090.4:c.2971G= MANE Select NP_000081.2:p.Glu991=