Canonical Allele Identifier: CA403619435
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6686148-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686148G>T , CM000681.2:g.6686148G>T GRCh38
NC_000019.9:g.6686159G>T , CM000681.1:g.6686159G>T GRCh37
NC_000019.8:g.6637159G>T NCBI36
NG_009557.1:g.39504C>A , LRG_27:g.39504C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2134C>A
ENST00000695652.1:c.3663C>A ENSP00000512083.1:p.Tyr1221Ter
ENST00000695653.1:c.1695C>A ENSP00000512084.1:p.Tyr565Ter
ENST00000695654.1:c.2811C>A ENSP00000512085.1:p.Tyr937Ter
ENST00000695655.1:c.2727C>A ENSP00000512086.1:n.2727C>A
ENST00000695692.1:n.3150C>A
ENST00000245907.11:c.3786C>A MANE Select ENSP00000245907.4:p.Tyr1262Ter
ENST00000245907.10:c.3786C>A ENSP00000245907.4:p.Tyr1262Ter
ENST00000596238.1:n.229C>A
ENST00000601008.1:c.241+598C>A ENSP00000471384.1:n.241+598C>A
NM_000064.3:c.3786C>A NP_000055.2:p.Tyr1262Ter
NM_000064.4:c.3786C>A MANE Select NP_000055.2:p.Tyr1262Ter