Canonical Allele Identifier: CA349846638
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714831
ClinVar RCV Id: RCV002304415
MyVariant Identifiers: chr2:g.189873684C>A (hg19) chr2:g.189008958C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008958C>A , CM000664.2:g.189008958C>A GRCh38
NC_000002.11:g.189873684C>A , CM000664.1:g.189873684C>A GRCh37
NC_000002.10:g.189581929C>A NCBI36
NG_007404.1:g.39586C>A , LRG_3:g.39586C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3461C>A ENSP00000415346.2:p.Pro1154His
ENST00000304636.9:c.3560C>A MANE Select ENSP00000304408.4:p.Pro1187His
ENST00000304636.7:c.3560C>A ENSP00000304408.3:p.Pro1187His
ENST00000317840.9:c.2651C>A ENSP00000315243.6:p.Pro884His
ENST00000487010.1:n.657C>A
NM_000090.3:c.3560C>A , LRG_3t1:c.3560C>A NP_000081.1:p.Pro1187His
NM_000090.4:c.3560C>A MANE Select NP_000081.2:p.Pro1187His
Search 100 bp 5'
Search 100 bp 3'