Canonical Allele Identifier: CA10581907
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236994
ClinVar RCV Id: RCV000232240 RCV003317163
dbSNP Id: rs878853651
MyVariant Identifiers: chr2:g.189869002G>A (hg19) chr2:g.189004276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004276G>A , CM000664.2:g.189004276G>A GRCh38
NC_000002.11:g.189869002G>A , CM000664.1:g.189869002G>A GRCh37
NC_000002.10:g.189577247G>A NCBI36
NG_007404.1:g.34904G>A , LRG_3:g.34904G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2744G>A ENSP00000415346.2:p.Gly915Glu
ENST00000304636.9:c.2843G>A MANE Select ENSP00000304408.4:p.Gly948Glu
ENST00000304636.7:c.2843G>A ENSP00000304408.3:p.Gly948Glu
ENST00000317840.9:c.2527+1240G>A ENSP00000315243.6:n.2527+1240G>A
NM_000090.3:c.2843G>A , LRG_3t1:c.2843G>A NP_000081.1:p.Gly948Glu
NM_000090.4:c.2843G>A MANE Select NP_000081.2:p.Gly948Glu
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