Canonical Allele Identifier: CA9128252

Gene: C3

Linked Data

• ClinVar Variation Id: 330274
• ClinVar RCV Id: RCV000270705 ; RCV000307062 ; RCV000365261 ; RCV001820991 ; RCV002521255
• dbSNP Id: rs762332809
• ExAC: 19:6678210 G / A
• gnomAD v2: 19-6678210-G-A
• gnomAD v3: 19-6678199-G-A
• gnomAD v4: 19-6678199-G-A
• MyVariant Identifiers: chr19:g.6678210G>A (hg19) ; chr19:g.6678199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678199G>A , CM000681.2:g.6678199G>A	GRCh38
NC_000019.9:g.6678210G>A , CM000681.1:g.6678210G>A	GRCh37
NC_000019.8:g.6629210G>A	NCBI36
NG_009557.1:g.47453C>T , LRG_27:g.47453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.3151C>T
ENST00000695653.1:c.2712C>T	ENSP00000512084.1:p.His904=
ENST00000695654.1:c.3828C>T	ENSP00000512085.1:p.His1276=
ENST00000695689.1:c.774C>T	ENSP00000512101.1:n.774C>T
ENST00000695690.1:n.1868C>T
ENST00000695691.1:n.1664C>T
ENST00000245907.11:c.4803C>T MANE Select	ENSP00000245907.4:p.His1601=
ENST00000245907.10:c.4803C>T	ENSP00000245907.4:p.His1601=
ENST00000599668.1:n.423C>T
ENST00000599899.5:n.1762C>T
ENST00000601008.1:c.242-241C>T	ENSP00000471384.1:n.242-241C>T
ENST00000601475.1:n.132C>T
ENST00000602229.1:c.250C>T
NM_000064.3:c.4803C>T	NP_000055.2:p.His1601=
NM_000064.4:c.4803C>T MANE Select	NP_000055.2:p.His1601=