Canonical Allele Identifier: CA005264
Gene: COL3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.188999888G>A
GRCh37 chr2:g.189864614G>A
Revel Score:
ENST00000304636 (MANE Select) 0.992
ENST00000317840 0.992
ClinVar RCV:
RCV000087340
ClinVar Variation:
101103
dbSNP:
587779418
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999888G>A , CM000664.2:g.188999888G>A GRCh38
NC_000002.11:g.189864614G>A , CM000664.1:g.189864614G>A GRCh37
NC_000002.10:g.189572859G>A NCBI36
NG_007404.1:g.30516G>A , LRG_3:g.30516G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2177G>A ENSP00000415346.2:p.Gly726Asp
ENST00000304636.9:c.2276G>A MANE Select ENSP00000304408.4:p.Gly759Asp
ENST00000304636.7:c.2276G>A ENSP00000304408.3:p.Gly759Asp
ENST00000317840.9:c.2276G>A ENSP00000315243.6:p.Gly759Asp
NM_000090.3:c.2276G>A , LRG_3t1:c.2276G>A NP_000081.1:p.Gly759Asp
NM_000090.4:c.2276G>A MANE Select NP_000081.2:p.Gly759Asp
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