Canonical Allele Identifier: CA006735
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242647
ClinVar RCV Id: RCV000087466 RCV000758209
dbSNP Id: rs587779528
MyVariant Identifiers: chr2:g.189874931G>A (hg19) chr2:g.189010205G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010205G>A , CM000664.2:g.189010205G>A GRCh38
NC_000002.11:g.189874931G>A , CM000664.1:g.189874931G>A GRCh37
NC_000002.10:g.189583176G>A NCBI36
NG_007404.1:g.40833G>A , LRG_3:g.40833G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3752G>A ENSP00000415346.2:p.Gly1251Glu
ENST00000304636.9:c.3851G>A MANE Select ENSP00000304408.4:p.Gly1284Glu
ENST00000304636.7:c.3851G>A ENSP00000304408.3:p.Gly1284Glu
ENST00000317840.9:c.2942G>A ENSP00000315243.6:p.Gly981Glu
ENST00000487010.1:n.948G>A
NM_000090.3:c.3851G>A , LRG_3t1:c.3851G>A NP_000081.1:p.Gly1284Glu
NM_000090.4:c.3851G>A MANE Select NP_000081.2:p.Gly1284Glu
Search 100 bp 5'
Search 100 bp 3'