Canonical Allele Identifier: CA430309452
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189858983T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994257T>C , CM000664.2:g.188994257T>C GRCh38
NC_000002.11:g.189858983T>C , CM000664.1:g.189858983T>C GRCh37
NC_000002.10:g.189567228T>C NCBI36
NG_007404.1:g.24885T>C , LRG_3:g.24885T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1119T>C ENSP00000415346.2:p.Ala373=
ENST00000304636.9:c.1218T>C MANE Select ENSP00000304408.4:p.Ala406=
ENST00000304636.7:c.1218T>C ENSP00000304408.3:p.Ala406=
ENST00000317840.9:c.1218T>C ENSP00000315243.6:p.Ala406=
ENST00000450867.1:c.217T>C
NM_000090.3:c.1218T>C , LRG_3t1:c.1218T>C NP_000081.1:p.Ala406=
NM_000090.4:c.1218T>C MANE Select NP_000081.2:p.Ala406=