Canonical Allele Identifier: CA1315406309
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010683C= , CM000664.2:g.189010683C= GRCh38
NC_000002.11:g.189875409C= , CM000664.1:g.189875409C= GRCh37
NC_000002.10:g.189583654C= NCBI36
NG_007404.1:g.41311C= , LRG_3:g.41311C=

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3948C= ENSP00000415346.2:p.Val1316=
ENST00000304636.9:c.4047C= MANE Select ENSP00000304408.4:p.Val1349=
ENST00000304636.7:c.4047C= ENSP00000304408.3:p.Val1349=
ENST00000317840.9:c.3138C= ENSP00000315243.6:p.Val1046=
ENST00000487010.1:n.1426C=
NM_000090.3:c.4047C= , LRG_3t1:c.4047C= NP_000081.1:p.Val1349=
NM_000090.4:c.4047C= MANE Select NP_000081.2:p.Val1349=