Canonical Allele Identifier: CA1315406358
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010792G= , CM000664.2:g.189010792G= GRCh38
NC_000002.11:g.189875518G= , CM000664.1:g.189875518G= GRCh37
NC_000002.10:g.189583763G= NCBI36
NG_007404.1:g.41420G= , LRG_3:g.41420G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.4057G= ENSP00000415346.2:p.Val1353=
ENST00000304636.9:c.4156G= MANE Select ENSP00000304408.4:p.Val1386=
ENST00000304636.7:c.4156G= ENSP00000304408.3:p.Val1386=
ENST00000317840.9:c.3247G= ENSP00000315243.6:p.Val1083=
ENST00000487010.1:n.1535G=
NM_000090.3:c.4156G= , LRG_3t1:c.4156G= NP_000081.1:p.Val1386=
NM_000090.4:c.4156G= MANE Select NP_000081.2:p.Val1386=