Canonical Allele Identifier: CA004403
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101269
ClinVar RCV Id: RCV002310654
dbSNP Id: rs587779535
ExAC: 2:189860905 G / A
gnomAD v2: 2-189860905-G-A
gnomAD v4: 2-188996179-G-A
COSMIC: COSM5008074 COSM5008075
MyVariant Identifiers: chr2:g.189860905G>A (hg19) chr2:g.188996179G>A (hg38)
PubMed: PMID:8881656 PMID:9036918 PMID:9399899 PMID:10706896 PMID:18043893 PMID:21533953 PMID:25758994
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996179G>A , CM000664.2:g.188996179G>A GRCh38
NC_000002.11:g.189860905G>A , CM000664.1:g.189860905G>A GRCh37
NC_000002.10:g.189569150G>A NCBI36
NG_007404.1:g.26807G>A , LRG_3:g.26807G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1563+1G>A ENSP00000415346.2:n.1563+1G>A
ENST00000304636.9:c.1662+1G>A MANE Select ENSP00000304408.4:n.1662+1G>A
ENST00000304636.7:c.1662+1G>A ENSP00000304408.3:n.1662+1G>A
ENST00000317840.9:c.1662+1G>A ENSP00000315243.6:n.1662+1G>A
NM_000090.3:c.1662+1G>A , LRG_3t1:c.1662+1G>A NP_000081.1:n.1662+1G>A
NM_000090.4:c.1662+1G>A MANE Select NP_000081.2:n.1662+1G>A
Search 100 bp 5'
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