Canonical Allele Identifier: CA004883
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101376
ClinVar RCV Id: RCV000087614
dbSNP Id: rs587779643
MyVariant Identifiers: chr2:g.189863444G>A (hg19) chr2:g.188998718G>A (hg38)
PubMed: PMID:9399899 PMID:10706896
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188998718G>A , CM000664.2:g.188998718G>A GRCh38
NC_000002.11:g.189863444G>A , CM000664.1:g.189863444G>A GRCh37
NC_000002.10:g.189571689G>A NCBI36
NG_007404.1:g.29346G>A , LRG_3:g.29346G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1923G>A ENSP00000415346.2:p.Lys641=
ENST00000304636.9:c.2022G>A MANE Select ENSP00000304408.4:p.Lys674=
ENST00000304636.7:c.2022G>A ENSP00000304408.3:p.Lys674=
ENST00000317840.9:c.2022G>A ENSP00000315243.6:p.Lys674=
NM_000090.3:c.2022G>A , LRG_3t1:c.2022G>A NP_000081.1:p.Lys674=
NM_000090.4:c.2022G>A MANE Select NP_000081.2:p.Lys674=
Search 100 bp 5'
Search 100 bp 3'