Canonical Allele Identifier: CA993078433

Gene: C3

Linked Data

• dbSNP Id: rs1967991988
• gnomAD v3: 19-6714563-G-A
• gnomAD v4: 19-6714563-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714563G>A , CM000681.2:g.6714563G>A	GRCh38
NC_000019.9:g.6714574G>A , CM000681.1:g.6714574G>A	GRCh37
NC_000019.8:g.6665574G>A	NCBI36
NG_009557.1:g.11089C>T , LRG_27:g.11089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.382-117C>T	ENSP00000512083.1:n.382-117C>T
ENST00000245907.11:c.505-117C>T MANE Select	ENSP00000245907.4:n.505-117C>T
ENST00000245907.10:c.505-117C>T	ENSP00000245907.4:n.505-117C>T
NM_000064.3:c.505-117C>T	NP_000055.2:n.505-117C>T
NM_000064.4:c.505-117C>T MANE Select	NP_000055.2:n.505-117C>T