Canonical Allele Identifier: CA403642568
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1381361373
gnomAD v3: 19-6713445-G-C
gnomAD v4: 19-6713445-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713445G>C , CM000681.2:g.6713445G>C GRCh38
NC_000019.9:g.6713456G>C , CM000681.1:g.6713456G>C GRCh37
NC_000019.8:g.6664456G>C NCBI36
NG_009557.1:g.12207C>G , LRG_27:g.12207C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.715C>G ENSP00000512083.1:p.Gln239Glu
ENST00000695692.1:n.162C>G
ENST00000245907.11:c.838C>G MANE Select ENSP00000245907.4:p.Gln280Glu
ENST00000245907.10:c.838C>G ENSP00000245907.4:p.Gln280Glu
ENST00000595577.1:n.342C>G
ENST00000597442.5:n.88C>G
NM_000064.3:c.838C>G NP_000055.2:p.Gln280Glu
NM_000064.4:c.838C>G MANE Select NP_000055.2:p.Gln280Glu