Canonical Allele Identifier: CA430312478
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189870105T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005379T>C , CM000664.2:g.189005379T>C GRCh38
NC_000002.11:g.189870105T>C , CM000664.1:g.189870105T>C GRCh37
NC_000002.10:g.189578350T>C NCBI36
NG_007404.1:g.36007T>C , LRG_3:g.36007T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2862T>C ENSP00000415346.2:p.Gly954=
ENST00000304636.9:c.2961T>C MANE Select ENSP00000304408.4:p.Gly987=
ENST00000304636.7:c.2961T>C ENSP00000304408.3:p.Gly987=
ENST00000317840.9:c.2527+2343T>C ENSP00000315243.6:n.2527+2343T>C
NM_000090.3:c.2961T>C , LRG_3t1:c.2961T>C NP_000081.1:p.Gly987=
NM_000090.4:c.2961T>C MANE Select NP_000081.2:p.Gly987=
Search 100 bp 5'
Search 100 bp 3'