Canonical Allele Identifier: CA403612056
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2948G>T
ENST00000695653.1:c.2509G>T ENSP00000512084.1:p.Asp837Tyr
ENST00000695654.1:c.3625G>T ENSP00000512085.1:p.Asp1209Tyr
ENST00000695689.1:c.571G>T ENSP00000512101.1:n.571G>T
ENST00000695690.1:n.1665G>T
ENST00000695691.1:n.1461G>T
ENST00000245907.11:c.4600G>T MANE Select ENSP00000245907.4:p.Asp1534Tyr
ENST00000245907.10:c.4600G>T ENSP00000245907.4:p.Asp1534Tyr
ENST00000599668.1:n.220G>T
ENST00000599899.5:n.1559G>T
ENST00000601008.1:c.242-1197G>T ENSP00000471384.1:n.242-1197G>T
ENST00000602229.1:c.47G>T
NM_000064.3:c.4600G>T NP_000055.2:p.Asp1534Tyr
NM_000064.4:c.4600G>T MANE Select NP_000055.2:p.Asp1534Tyr