Canonical Allele Identifier: CA403612057
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679155C>G , CM000681.2:g.6679155C>G GRCh38
NC_000019.9:g.6679166C>G , CM000681.1:g.6679166C>G GRCh37
NC_000019.8:g.6630166C>G NCBI36
NG_009557.1:g.46497G>C , LRG_27:g.46497G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2948G>C
ENST00000695653.1:c.2509G>C ENSP00000512084.1:p.Asp837His
ENST00000695654.1:c.3625G>C ENSP00000512085.1:p.Asp1209His
ENST00000695689.1:c.571G>C ENSP00000512101.1:n.571G>C
ENST00000695690.1:n.1665G>C
ENST00000695691.1:n.1461G>C
ENST00000245907.11:c.4600G>C MANE Select ENSP00000245907.4:p.Asp1534His
ENST00000245907.10:c.4600G>C ENSP00000245907.4:p.Asp1534His
ENST00000599668.1:n.220G>C
ENST00000599899.5:n.1559G>C
ENST00000601008.1:c.242-1197G>C ENSP00000471384.1:n.242-1197G>C
ENST00000602229.1:c.47G>C
NM_000064.3:c.4600G>C NP_000055.2:p.Asp1534His
NM_000064.4:c.4600G>C MANE Select NP_000055.2:p.Asp1534His