Canonical Allele Identifier: CA9129605

Gene: C3

Linked Data

• dbSNP Id: rs199822994
• ExAC: 19:6713209 A / G
• gnomAD v2: 19-6713209-A-G
• gnomAD v4: 19-6713198-A-G
• MyVariant Identifiers: chr19:g.6713209A>G (hg19) ; chr19:g.6713198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713198A>G , CM000681.2:g.6713198A>G	GRCh38
NC_000019.9:g.6713209A>G , CM000681.1:g.6713209A>G	GRCh37
NC_000019.8:g.6664209A>G	NCBI36
NG_009557.1:g.12454T>C , LRG_27:g.12454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.871T>C	ENSP00000512083.1:p.Leu291=
ENST00000695654.1:c.118T>C	ENSP00000512085.1:p.Leu40=
ENST00000695692.1:n.318T>C
ENST00000245907.11:c.994T>C MANE Select	ENSP00000245907.4:p.Leu332=
ENST00000245907.10:c.994T>C	ENSP00000245907.4:p.Leu332=
ENST00000594270.5:n.118T>C
ENST00000595577.1:n.498T>C
ENST00000597442.5:n.244T>C
NM_000064.3:c.994T>C	NP_000055.2:p.Leu332=
NM_000064.4:c.994T>C MANE Select	NP_000055.2:p.Leu332=