Canonical Allele Identifier: CA884140534
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1174437677
gnomAD v3: 19-6697641-C-G
gnomAD v4: 19-6697641-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697641C>G , CM000681.2:g.6697641C>G GRCh38
NC_000019.9:g.6697652C>G , CM000681.1:g.6697652C>G GRCh37
NC_000019.8:g.6648652C>G NCBI36
NG_009557.1:g.28011G>C , LRG_27:g.28011G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.931+11G>C
ENST00000695652.1:c.2460+11G>C ENSP00000512083.1:n.2460+11G>C
ENST00000695653.1:c.492+11G>C ENSP00000512084.1:n.492+11G>C
ENST00000695654.1:c.1707+11G>C ENSP00000512085.1:n.1707+11G>C
ENST00000695655.1:c.1524+11G>C ENSP00000512086.1:n.1524+11G>C
ENST00000695692.1:n.1947+11G>C
ENST00000245907.11:c.2583+11G>C MANE Select ENSP00000245907.4:n.2583+11G>C
ENST00000245907.10:c.2583+11G>C ENSP00000245907.4:n.2583+11G>C
ENST00000594005.1:n.75G>C
NM_000064.3:c.2583+11G>C NP_000055.2:n.2583+11G>C
NM_000064.4:c.2583+11G>C MANE Select NP_000055.2:n.2583+11G>C