Canonical Allele Identifier: CA005863
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101246
ClinVar RCV Id: RCV000087483
dbSNP Id: rs587779542
MyVariant Identifiers: chr2:g.189869083G>T (hg19) chr2:g.189004357G>T (hg38)
PubMed: PMID:18043893
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004357G>T , CM000664.2:g.189004357G>T GRCh38
NC_000002.11:g.189869083G>T , CM000664.1:g.189869083G>T GRCh37
NC_000002.10:g.189577328G>T NCBI36
NG_007404.1:g.34985G>T , LRG_3:g.34985G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2825G>T ENSP00000415346.2:p.Gly942Val
ENST00000304636.9:c.2924G>T MANE Select ENSP00000304408.4:p.Gly975Val
ENST00000304636.7:c.2924G>T ENSP00000304408.3:p.Gly975Val
ENST00000317840.9:c.2527+1321G>T ENSP00000315243.6:n.2527+1321G>T
NM_000090.3:c.2924G>T , LRG_3t1:c.2924G>T NP_000081.1:p.Gly975Val
NM_000090.4:c.2924G>T MANE Select NP_000081.2:p.Gly975Val
Search 100 bp 5'
Search 100 bp 3'