Canonical Allele Identifier: CA304771717
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs749677615

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679440G>C , CM000681.2:g.6679440G>C GRCh38
NC_000019.9:g.6679451G>C , CM000681.1:g.6679451G>C GRCh37
NC_000019.8:g.6630451G>C NCBI36
NG_009557.1:g.46212C>G , LRG_27:g.46212C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2861C>G
ENST00000695653.1:c.2422C>G ENSP00000512084.1:p.Leu808Val
ENST00000695654.1:c.3538C>G ENSP00000512085.1:p.Leu1180Val
ENST00000695689.1:c.484C>G ENSP00000512101.1:n.484C>G
ENST00000695690.1:n.1578C>G
ENST00000695691.1:n.1374C>G
ENST00000245907.11:c.4513C>G MANE Select ENSP00000245907.4:p.Leu1505Val
ENST00000245907.10:c.4513C>G ENSP00000245907.4:p.Leu1505Val
ENST00000599668.1:n.108C>G
ENST00000599899.5:n.1472C>G
ENST00000601008.1:c.242-1482C>G ENSP00000471384.1:n.242-1482C>G
NM_000064.3:c.4513C>G NP_000055.2:p.Leu1505Val
NM_000064.4:c.4513C>G MANE Select NP_000055.2:p.Leu1505Val