Canonical Allele Identifier: CA403614902
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681999T>G , CM000681.2:g.6681999T>G GRCh38
NC_000019.9:g.6682010T>G , CM000681.1:g.6682010T>G GRCh37
NC_000019.8:g.6633010T>G NCBI36
NG_009557.1:g.43653A>C , LRG_27:g.43653A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2640A>C
ENST00000695653.1:c.2201A>C ENSP00000512084.1:p.Lys734Thr
ENST00000695654.1:c.3317A>C ENSP00000512085.1:p.Lys1106Thr
ENST00000695689.1:c.263A>C ENSP00000512101.1:n.263A>C
ENST00000695690.1:n.483A>C
ENST00000695691.1:n.483A>C
ENST00000245907.11:c.4292A>C MANE Select ENSP00000245907.4:p.Lys1431Thr
ENST00000245907.10:c.4292A>C ENSP00000245907.4:p.Lys1431Thr
ENST00000596548.1:c.413A>C ENSP00000469744.1:p.Lys138Thr
ENST00000599899.5:n.1251A>C
ENST00000601008.1:c.242-4041A>C ENSP00000471384.1:n.242-4041A>C
NM_000064.3:c.4292A>C NP_000055.2:p.Lys1431Thr
NM_000064.4:c.4292A>C MANE Select NP_000055.2:p.Lys1431Thr