Canonical Allele Identifier: CA304797703
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2910449
ClinVar RCV Id: RCV003734683
dbSNP Id: rs200538609
gnomAD v2: 19-6713302-C-T
gnomAD v3: 19-6713291-C-T
gnomAD v4: 19-6713291-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713291C>T , CM000681.2:g.6713291C>T GRCh38
NC_000019.9:g.6713302C>T , CM000681.1:g.6713302C>T GRCh37
NC_000019.8:g.6664302C>T NCBI36
NG_009557.1:g.12361G>A , LRG_27:g.12361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.778G>A ENSP00000512083.1:p.Val260Met
ENST00000695654.1:c.25G>A ENSP00000512085.1:p.Val9Met
ENST00000695692.1:n.225G>A
ENST00000245907.11:c.901G>A MANE Select ENSP00000245907.4:p.Val301Met
ENST00000245907.10:c.901G>A ENSP00000245907.4:p.Val301Met
ENST00000594270.5:n.25G>A
ENST00000595577.1:n.405G>A
ENST00000597442.5:n.151G>A
NM_000064.3:c.901G>A NP_000055.2:p.Val301Met
NM_000064.4:c.901G>A MANE Select NP_000055.2:p.Val301Met