Canonical Allele Identifier: CA403619954

Gene: C3

Linked Data

• dbSNP Id: rs1918005771
• MyVariant Identifiers: chr19:g.6686256A>G (hg19) ; chr19:g.6686245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686245A>G , CM000681.2:g.6686245A>G	GRCh38
NC_000019.9:g.6686256A>G , CM000681.1:g.6686256A>G	GRCh37
NC_000019.8:g.6637256A>G	NCBI36
NG_009557.1:g.39407T>C , LRG_27:g.39407T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2037T>C
ENST00000695652.1:c.3566T>C	ENSP00000512083.1:p.Val1189Ala
ENST00000695653.1:c.1598T>C	ENSP00000512084.1:p.Val533Ala
ENST00000695654.1:c.2714T>C	ENSP00000512085.1:p.Val905Ala
ENST00000695655.1:c.2630T>C	ENSP00000512086.1:n.2630T>C
ENST00000695692.1:n.3053T>C
ENST00000245907.11:c.3689T>C MANE Select	ENSP00000245907.4:p.Val1230Ala
ENST00000245907.10:c.3689T>C	ENSP00000245907.4:p.Val1230Ala
ENST00000596238.1:n.132T>C
ENST00000601008.1:c.241+501T>C	ENSP00000471384.1:n.241+501T>C
NM_000064.3:c.3689T>C	NP_000055.2:p.Val1230Ala
NM_000064.4:c.3689T>C MANE Select	NP_000055.2:p.Val1230Ala