Canonical Allele Identifier: CA2576661563
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697635-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697635G>A , CM000681.2:g.6697635G>A GRCh38
NC_000019.9:g.6697646G>A , CM000681.1:g.6697646G>A GRCh37
NC_000019.8:g.6648646G>A NCBI36
NG_009557.1:g.28017C>T , LRG_27:g.28017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.931+17C>T
ENST00000695652.1:c.2460+17C>T ENSP00000512083.1:n.2460+17C>T
ENST00000695653.1:c.492+17C>T ENSP00000512084.1:n.492+17C>T
ENST00000695654.1:c.1707+17C>T ENSP00000512085.1:n.1707+17C>T
ENST00000695655.1:c.1524+17C>T ENSP00000512086.1:n.1524+17C>T
ENST00000695692.1:n.1947+17C>T
ENST00000245907.11:c.2583+17C>T MANE Select ENSP00000245907.4:n.2583+17C>T
ENST00000245907.10:c.2583+17C>T ENSP00000245907.4:n.2583+17C>T
ENST00000594005.1:n.81C>T
NM_000064.3:c.2583+17C>T NP_000055.2:n.2583+17C>T
NM_000064.4:c.2583+17C>T MANE Select NP_000055.2:n.2583+17C>T