Canonical Allele Identifier: CA403615482
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2809822
ClinVar RCV Id: RCV003680148
dbSNP Id: rs1232937699
gnomAD v4: 19-6682204-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682204T>C , CM000681.2:g.6682204T>C GRCh38
NC_000019.9:g.6682215T>C , CM000681.1:g.6682215T>C GRCh37
NC_000019.8:g.6633215T>C NCBI36
NG_009557.1:g.43448A>G , LRG_27:g.43448A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2546A>G
ENST00000695653.1:c.2107A>G ENSP00000512084.1:p.Met703Val
ENST00000695654.1:c.3223A>G ENSP00000512085.1:p.Met1075Val
ENST00000695689.1:c.169A>G ENSP00000512101.1:n.169A>G
ENST00000695690.1:n.389A>G
ENST00000695691.1:n.389A>G
ENST00000245907.11:c.4198A>G MANE Select ENSP00000245907.4:p.Met1400Val
ENST00000245907.10:c.4198A>G ENSP00000245907.4:p.Met1400Val
ENST00000596548.1:c.319A>G ENSP00000469744.1:p.Met107Val
ENST00000599899.5:n.1157A>G
ENST00000601008.1:c.242-4246A>G ENSP00000471384.1:n.242-4246A>G
NM_000064.3:c.4198A>G NP_000055.2:p.Met1400Val
NM_000064.4:c.4198A>G MANE Select NP_000055.2:p.Met1400Val