Canonical Allele Identifier: CA9128481

Gene: C3

Linked Data

• ClinVar Variation Id: 1388745
• ClinVar RCV Id: RCV001886823 ; RCV002503502
• dbSNP Id: rs148227405
• ExAC: 19:6682236 G / A
• gnomAD v2: 19-6682236-G-A
• gnomAD v3: 19-6682225-G-A
• gnomAD v4: 19-6682225-G-A
• MyVariant Identifiers: chr19:g.6682236G>A (hg19) ; chr19:g.6682225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682225G>A , CM000681.2:g.6682225G>A	GRCh38
NC_000019.9:g.6682236G>A , CM000681.1:g.6682236G>A	GRCh37
NC_000019.8:g.6633236G>A	NCBI36
NG_009557.1:g.43427C>T , LRG_27:g.43427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2525C>T
ENST00000695653.1:c.2086C>T	ENSP00000512084.1:p.Arg696Trp
ENST00000695654.1:c.3202C>T	ENSP00000512085.1:p.Arg1068Trp
ENST00000695689.1:c.148C>T	ENSP00000512101.1:n.148C>T
ENST00000695690.1:n.368C>T
ENST00000695691.1:n.368C>T
ENST00000245907.11:c.4177C>T MANE Select	ENSP00000245907.4:p.Arg1393Trp
ENST00000245907.10:c.4177C>T	ENSP00000245907.4:p.Arg1393Trp
ENST00000596548.1:c.298C>T	ENSP00000469744.1:p.Arg100Trp
ENST00000599899.5:n.1136C>T
ENST00000601008.1:c.242-4267C>T	ENSP00000471384.1:n.242-4267C>T
NM_000064.3:c.4177C>T	NP_000055.2:p.Arg1393Trp
NM_000064.4:c.4177C>T MANE Select	NP_000055.2:p.Arg1393Trp