Canonical Allele Identifier: CA403615356
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682171A>C , CM000681.2:g.6682171A>C GRCh38
NC_000019.9:g.6682182A>C , CM000681.1:g.6682182A>C GRCh37
NC_000019.8:g.6633182A>C NCBI36
NG_009557.1:g.43481T>G , LRG_27:g.43481T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2579T>G
ENST00000695653.1:c.2140T>G ENSP00000512084.1:p.Phe714Val
ENST00000695654.1:c.3256T>G ENSP00000512085.1:p.Phe1086Val
ENST00000695689.1:c.202T>G ENSP00000512101.1:n.202T>G
ENST00000695690.1:n.422T>G
ENST00000695691.1:n.422T>G
ENST00000245907.11:c.4231T>G MANE Select ENSP00000245907.4:p.Phe1411Val
ENST00000245907.10:c.4231T>G ENSP00000245907.4:p.Phe1411Val
ENST00000596548.1:c.352T>G ENSP00000469744.1:p.Phe118Val
ENST00000599899.5:n.1190T>G
ENST00000601008.1:c.242-4213T>G ENSP00000471384.1:n.242-4213T>G
NM_000064.3:c.4231T>G NP_000055.2:p.Phe1411Val
NM_000064.4:c.4231T>G MANE Select NP_000055.2:p.Phe1411Val