Canonical Allele Identifier: CA006097
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199738
ClinVar RCV Id: RCV001189514 RCV001852259
dbSNP Id: rs780788248
ExAC: 2:189871078 G / A
gnomAD v2: 2-189871078-G-A
gnomAD v3: 2-189006352-G-A
gnomAD v4: 2-189006352-G-A
COSMIC: COSM1669593
MyVariant Identifiers: chr2:g.189871078G>A (hg19) chr2:g.189006352G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006352G>A , CM000664.2:g.189006352G>A GRCh38
NC_000002.11:g.189871078G>A , CM000664.1:g.189871078G>A GRCh37
NC_000002.10:g.189579323G>A NCBI36
NG_007404.1:g.36980G>A , LRG_3:g.36980G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3002G>A ENSP00000415346.2:p.Arg1001His
ENST00000304636.9:c.3101G>A MANE Select ENSP00000304408.4:p.Arg1034His
ENST00000304636.7:c.3101G>A ENSP00000304408.3:p.Arg1034His
ENST00000317840.9:c.2528-1702G>A ENSP00000315243.6:n.2528-1702G>A
NM_000090.3:c.3101G>A , LRG_3t1:c.3101G>A NP_000081.1:p.Arg1034His
NM_000090.4:c.3101G>A MANE Select NP_000081.2:p.Arg1034His
Search 100 bp 5'
Search 100 bp 3'