Canonical Allele Identifier: CA2587871642
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6678998-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6678998C>G , CM000681.2:g.6678998C>G GRCh38
NC_000019.9:g.6679009C>G , CM000681.1:g.6679009C>G GRCh37
NC_000019.8:g.6630009C>G NCBI36
NG_009557.1:g.46654G>C , LRG_27:g.46654G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+127G>C
ENST00000695653.1:c.2539+127G>C ENSP00000512084.1:n.2539+127G>C
ENST00000695654.1:c.3655+127G>C ENSP00000512085.1:n.3655+127G>C
ENST00000695689.1:c.601+127G>C ENSP00000512101.1:n.601+127G>C
ENST00000695690.1:n.1695+127G>C
ENST00000695691.1:n.1491+127G>C
ENST00000245907.11:c.4630+127G>C MANE Select ENSP00000245907.4:n.4630+127G>C
ENST00000245907.10:c.4630+127G>C ENSP00000245907.4:n.4630+127G>C
ENST00000599668.1:n.250+127G>C
ENST00000599899.5:n.1589+127G>C
ENST00000601008.1:c.242-1040G>C ENSP00000471384.1:n.242-1040G>C
ENST00000602229.1:c.77+127G>C
NM_000064.3:c.4630+127G>C NP_000055.2:n.4630+127G>C
NM_000064.4:c.4630+127G>C MANE Select NP_000055.2:n.4630+127G>C