Canonical Allele Identifier: CA9129664
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs765465415
ExAC: 19:6713510 C / T
gnomAD v2: 19-6713510-C-T
gnomAD v4: 19-6713499-C-T
COSMIC: COSM1003009
MyVariant Identifiers: chr19:g.6713510C>T (hg19) chr19:g.6713499C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713499C>T , CM000681.2:g.6713499C>T GRCh38
NC_000019.9:g.6713510C>T , CM000681.1:g.6713510C>T GRCh37
NC_000019.8:g.6664510C>T NCBI36
NG_009557.1:g.12153G>A , LRG_27:g.12153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.661G>A ENSP00000512083.1:p.Gly221Arg
ENST00000695692.1:n.108G>A
ENST00000245907.11:c.784G>A MANE Select ENSP00000245907.4:p.Gly262Arg
ENST00000245907.10:c.784G>A ENSP00000245907.4:p.Gly262Arg
ENST00000595577.1:n.288G>A
ENST00000597442.5:n.34G>A
NM_000064.3:c.784G>A NP_000055.2:p.Gly262Arg
NM_000064.4:c.784G>A MANE Select NP_000055.2:p.Gly262Arg
Search 100 bp 5'
Search 100 bp 3'