Canonical Allele Identifier: CA006665
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101202
ClinVar RCV Id: RCV000087439 RCV002453419
dbSNP Id: rs587779504
MyVariant Identifiers: chr2:g.189873686G>A (hg19) chr2:g.189008960G>A (hg38)
PubMed: PMID:10706896
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008960G>A , CM000664.2:g.189008960G>A GRCh38
NC_000002.11:g.189873686G>A , CM000664.1:g.189873686G>A GRCh37
NC_000002.10:g.189581931G>A NCBI36
NG_007404.1:g.39588G>A , LRG_3:g.39588G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3463G>A ENSP00000415346.2:p.Gly1155Arg
ENST00000304636.9:c.3562G>A MANE Select ENSP00000304408.4:p.Gly1188Arg
ENST00000304636.7:c.3562G>A ENSP00000304408.3:p.Gly1188Arg
ENST00000317840.9:c.2653G>A ENSP00000315243.6:p.Gly885Arg
ENST00000487010.1:n.659G>A
NM_000090.3:c.3562G>A , LRG_3t1:c.3562G>A NP_000081.1:p.Gly1188Arg
NM_000090.4:c.3562G>A MANE Select NP_000081.2:p.Gly1188Arg
Search 100 bp 5'
Search 100 bp 3'