Canonical Allele Identifier: CA993073701
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs111510637
gnomAD v3: 19-6710041-A-C
gnomAD v4: 19-6710041-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6710041A>C , CM000681.2:g.6710041A>C GRCh38
NC_000019.9:g.6710052A>C , CM000681.1:g.6710052A>C GRCh37
NC_000019.8:g.6661052A>C NCBI36
NG_009557.1:g.15611T>G , LRG_27:g.15611T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-199T>G ENSP00000512083.1:n.1564-199T>G
ENST00000695654.1:c.811-199T>G ENSP00000512085.1:n.811-199T>G
ENST00000695655.1:c.592-163T>G ENSP00000512086.1:n.592-163T>G
ENST00000695692.1:n.1051-199T>G
ENST00000245907.11:c.1687-199T>G MANE Select ENSP00000245907.4:n.1687-199T>G
ENST00000245907.10:c.1687-199T>G ENSP00000245907.4:n.1687-199T>G
ENST00000600763.1:n.320-199T>G
NM_000064.3:c.1687-199T>G NP_000055.2:n.1687-199T>G
NM_000064.4:c.1687-199T>G MANE Select NP_000055.2:n.1687-199T>G