Canonical Allele Identifier: CA9128485

Gene: C3

Linked Data

• dbSNP Id: rs770608489
• ExAC: 19:6682270 T / G
• gnomAD v2: 19-6682270-T-G
• gnomAD v3: 19-6682259-T-G
• gnomAD v4: 19-6682259-T-G
• MyVariant Identifiers: chr19:g.6682270T>G (hg19) ; chr19:g.6682259T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682259T>G , CM000681.2:g.6682259T>G	GRCh38
NC_000019.9:g.6682270T>G , CM000681.1:g.6682270T>G	GRCh37
NC_000019.8:g.6633270T>G	NCBI36
NG_009557.1:g.43393A>C , LRG_27:g.43393A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-30A>C
ENST00000695653.1:c.2082-30A>C	ENSP00000512084.1:n.2082-30A>C
ENST00000695654.1:c.3198-30A>C	ENSP00000512085.1:n.3198-30A>C
ENST00000695689.1:c.144-30A>C	ENSP00000512101.1:n.144-30A>C
ENST00000695690.1:n.364-30A>C
ENST00000695691.1:n.364-30A>C
ENST00000245907.11:c.4173-30A>C MANE Select	ENSP00000245907.4:n.4173-30A>C
ENST00000245907.10:c.4173-30A>C	ENSP00000245907.4:n.4173-30A>C
ENST00000596548.1:c.294-30A>C	ENSP00000469744.1:n.294-30A>C
ENST00000599899.5:n.1102A>C
ENST00000601008.1:c.242-4301A>C	ENSP00000471384.1:n.242-4301A>C
NM_000064.3:c.4173-30A>C	NP_000055.2:n.4173-30A>C
NM_000064.4:c.4173-30A>C MANE Select	NP_000055.2:n.4173-30A>C