Canonical Allele Identifier: CA993063371
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1917815089
gnomAD v3: 19-6679875-A-G
gnomAD v4: 19-6679875-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679875A>G , CM000681.2:g.6679875A>G GRCh38
NC_000019.9:g.6679886A>G , CM000681.1:g.6679886A>G GRCh37
NC_000019.8:g.6630886A>G NCBI36
NG_009557.1:g.45777T>C , LRG_27:g.45777T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2804+283T>C
ENST00000695653.1:c.2365+283T>C ENSP00000512084.1:n.2365+283T>C
ENST00000695654.1:c.3481+283T>C ENSP00000512085.1:n.3481+283T>C
ENST00000695689.1:c.427+283T>C ENSP00000512101.1:n.427+283T>C
ENST00000695690.1:n.1521+283T>C
ENST00000695691.1:n.1317+283T>C
ENST00000245907.11:c.4456+283T>C MANE Select ENSP00000245907.4:n.4456+283T>C
ENST00000245907.10:c.4456+283T>C ENSP00000245907.4:n.4456+283T>C
ENST00000599668.1:n.51+226T>C
ENST00000599899.5:n.1415+283T>C
ENST00000601008.1:c.242-1917T>C ENSP00000471384.1:n.242-1917T>C
NM_000064.3:c.4456+283T>C NP_000055.2:n.4456+283T>C
NM_000064.4:c.4456+283T>C MANE Select NP_000055.2:n.4456+283T>C