Canonical Allele Identifier: CA349849503
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189875512G>T (hg19) chr2:g.189010786G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010786G>T , CM000664.2:g.189010786G>T GRCh38
NC_000002.11:g.189875512G>T , CM000664.1:g.189875512G>T GRCh37
NC_000002.10:g.189583757G>T NCBI36
NG_007404.1:g.41414G>T , LRG_3:g.41414G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.4051G>T ENSP00000415346.2:p.Gly1351Ter
ENST00000304636.9:c.4150G>T MANE Select ENSP00000304408.4:p.Gly1384Ter
ENST00000304636.7:c.4150G>T ENSP00000304408.3:p.Gly1384Ter
ENST00000317840.9:c.3241G>T ENSP00000315243.6:p.Gly1081Ter
ENST00000487010.1:n.1529G>T
NM_000090.3:c.4150G>T , LRG_3t1:c.4150G>T NP_000081.1:p.Gly1384Ter
NM_000090.4:c.4150G>T MANE Select NP_000081.2:p.Gly1384Ter
Search 100 bp 5'
Search 100 bp 3'