Canonical Allele Identifier: CA884164090
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1436682536
gnomAD v3: 19-6679059-A-G
gnomAD v4: 19-6679059-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679059A>G , CM000681.2:g.6679059A>G GRCh38
NC_000019.9:g.6679070A>G , CM000681.1:g.6679070A>G GRCh37
NC_000019.8:g.6630070A>G NCBI36
NG_009557.1:g.46593T>C , LRG_27:g.46593T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+66T>C
ENST00000695653.1:c.2539+66T>C ENSP00000512084.1:n.2539+66T>C
ENST00000695654.1:c.3655+66T>C ENSP00000512085.1:n.3655+66T>C
ENST00000695689.1:c.601+66T>C ENSP00000512101.1:n.601+66T>C
ENST00000695690.1:n.1695+66T>C
ENST00000695691.1:n.1491+66T>C
ENST00000245907.11:c.4630+66T>C MANE Select ENSP00000245907.4:n.4630+66T>C
ENST00000245907.10:c.4630+66T>C ENSP00000245907.4:n.4630+66T>C
ENST00000599668.1:n.250+66T>C
ENST00000599899.5:n.1589+66T>C
ENST00000601008.1:c.242-1101T>C ENSP00000471384.1:n.242-1101T>C
ENST00000602229.1:c.77+66T>C
NM_000064.3:c.4630+66T>C NP_000055.2:n.4630+66T>C
NM_000064.4:c.4630+66T>C MANE Select NP_000055.2:n.4630+66T>C