Canonical Allele Identifier: CA9128988
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs769080198
gnomAD v2: 19-6697445-C-A
gnomAD v4: 19-6697434-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697434C>A , CM000681.2:g.6697434C>A GRCh38
NC_000019.9:g.6697445C>A , CM000681.1:g.6697445C>A GRCh37
NC_000019.8:g.6648445C>A NCBI36
NG_009557.1:g.28218G>T , LRG_27:g.28218G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1054G>T
ENST00000695652.1:c.2583G>T ENSP00000512083.1:p.Pro861=
ENST00000695653.1:c.615G>T ENSP00000512084.1:p.Pro205=
ENST00000695654.1:c.1830G>T ENSP00000512085.1:p.Pro610=
ENST00000695655.1:c.1647G>T ENSP00000512086.1:n.1647G>T
ENST00000695692.1:n.2070G>T
ENST00000245907.11:c.2706G>T MANE Select ENSP00000245907.4:p.Pro902=
ENST00000245907.10:c.2706G>T ENSP00000245907.4:p.Pro902=
ENST00000594005.1:n.282G>T
NM_000064.3:c.2706G>T NP_000055.2:p.Pro902=
NM_000064.4:c.2706G>T MANE Select NP_000055.2:p.Pro902=