Canonical Allele Identifier: CA403614996
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682018C>G , CM000681.2:g.6682018C>G GRCh38
NC_000019.9:g.6682029C>G , CM000681.1:g.6682029C>G GRCh37
NC_000019.8:g.6633029C>G NCBI36
NG_009557.1:g.43634G>C , LRG_27:g.43634G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2621G>C
ENST00000695653.1:c.2182G>C ENSP00000512084.1:p.Val728Leu
ENST00000695654.1:c.3298G>C ENSP00000512085.1:p.Val1100Leu
ENST00000695689.1:c.244G>C ENSP00000512101.1:n.244G>C
ENST00000695690.1:n.464G>C
ENST00000695691.1:n.464G>C
ENST00000245907.11:c.4273G>C MANE Select ENSP00000245907.4:p.Val1425Leu
ENST00000245907.10:c.4273G>C ENSP00000245907.4:p.Val1425Leu
ENST00000596548.1:c.394G>C ENSP00000469744.1:p.Val132Leu
ENST00000599899.5:n.1232G>C
ENST00000601008.1:c.242-4060G>C ENSP00000471384.1:n.242-4060G>C
NM_000064.3:c.4273G>C NP_000055.2:p.Val1425Leu
NM_000064.4:c.4273G>C MANE Select NP_000055.2:p.Val1425Leu