Canonical Allele Identifier: CA304775888
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs990005703
gnomAD v3: 19-6686354-G-A
gnomAD v4: 19-6686354-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686354G>A , CM000681.2:g.6686354G>A GRCh38
NC_000019.9:g.6686365G>A , CM000681.1:g.6686365G>A GRCh37
NC_000019.8:g.6637365G>A NCBI36
NG_009557.1:g.39298C>T , LRG_27:g.39298C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1995-67C>T
ENST00000695652.1:c.3524-67C>T ENSP00000512083.1:n.3524-67C>T
ENST00000695653.1:c.1556-67C>T ENSP00000512084.1:n.1556-67C>T
ENST00000695654.1:c.2672-67C>T ENSP00000512085.1:n.2672-67C>T
ENST00000695655.1:c.2588-67C>T ENSP00000512086.1:n.2588-67C>T
ENST00000695692.1:n.3011-67C>T
ENST00000245907.11:c.3647-67C>T MANE Select ENSP00000245907.4:n.3647-67C>T
ENST00000245907.10:c.3647-67C>T ENSP00000245907.4:n.3647-67C>T
ENST00000596238.1:n.23C>T
ENST00000598805.2:n.808C>T
ENST00000601008.1:c.241+392C>T ENSP00000471384.1:n.241+392C>T
NM_000064.3:c.3647-67C>T NP_000055.2:n.3647-67C>T
NM_000064.4:c.3647-67C>T MANE Select NP_000055.2:n.3647-67C>T