Canonical Allele Identifier: CA403614751
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681979A>G , CM000681.2:g.6681979A>G GRCh38
NC_000019.9:g.6681990A>G , CM000681.1:g.6681990A>G GRCh37
NC_000019.8:g.6632990A>G NCBI36
NG_009557.1:g.43673T>C , LRG_27:g.43673T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2660T>C
ENST00000695653.1:c.2221T>C ENSP00000512084.1:p.Phe741Leu
ENST00000695654.1:c.3337T>C ENSP00000512085.1:p.Phe1113Leu
ENST00000695689.1:c.283T>C ENSP00000512101.1:n.283T>C
ENST00000695690.1:n.503T>C
ENST00000695691.1:n.503T>C
ENST00000245907.11:c.4312T>C MANE Select ENSP00000245907.4:p.Phe1438Leu
ENST00000245907.10:c.4312T>C ENSP00000245907.4:p.Phe1438Leu
ENST00000596548.1:c.433T>C ENSP00000469744.1:p.Phe145Leu
ENST00000599899.5:n.1271T>C
ENST00000601008.1:c.242-4021T>C ENSP00000471384.1:n.242-4021T>C
NM_000064.3:c.4312T>C NP_000055.2:p.Phe1438Leu
NM_000064.4:c.4312T>C MANE Select NP_000055.2:p.Phe1438Leu