Canonical Allele Identifier: CA349844792
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1445364
ClinVar RCV Id: RCV001958246
dbSNP Id: rs139859476
MyVariant Identifiers: chr2:g.189870137A>G (hg19) chr2:g.189005411A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005411A>G , CM000664.2:g.189005411A>G GRCh38
NC_000002.11:g.189870137A>G , CM000664.1:g.189870137A>G GRCh37
NC_000002.10:g.189578382A>G NCBI36
NG_007404.1:g.36039A>G , LRG_3:g.36039A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2894A>G ENSP00000415346.2:p.Gln965Arg
ENST00000304636.9:c.2993A>G MANE Select ENSP00000304408.4:p.Gln998Arg
ENST00000304636.7:c.2993A>G ENSP00000304408.3:p.Gln998Arg
ENST00000317840.9:c.2527+2375A>G ENSP00000315243.6:n.2527+2375A>G
NM_000090.3:c.2993A>G , LRG_3t1:c.2993A>G NP_000081.1:p.Gln998Arg
NM_000090.4:c.2993A>G MANE Select NP_000081.2:p.Gln998Arg
Search 100 bp 5'
Search 100 bp 3'