Canonical Allele Identifier: CA403618370

Gene: C3

Linked Data

• dbSNP Id: rs1299078409
• MyVariant Identifiers: chr19:g.6685051T>C (hg19) ; chr19:g.6685040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685040T>C , CM000681.2:g.6685040T>C	GRCh38
NC_000019.9:g.6685051T>C , CM000681.1:g.6685051T>C	GRCh37
NC_000019.8:g.6636051T>C	NCBI36
NG_009557.1:g.40612A>G , LRG_27:g.40612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2265A>G
ENST00000695653.1:c.1826A>G	ENSP00000512084.1:p.Lys609Arg
ENST00000695654.1:c.2942A>G	ENSP00000512085.1:p.Lys981Arg
ENST00000695690.1:n.108A>G
ENST00000695691.1:n.108A>G
ENST00000245907.11:c.3917A>G MANE Select	ENSP00000245907.4:p.Lys1306Arg
ENST00000245907.10:c.3917A>G	ENSP00000245907.4:p.Lys1306Arg
ENST00000596238.1:n.360A>G
ENST00000601008.1:c.241+1706A>G	ENSP00000471384.1:n.241+1706A>G
NM_000064.3:c.3917A>G	NP_000055.2:p.Lys1306Arg
NM_000064.4:c.3917A>G MANE Select	NP_000055.2:p.Lys1306Arg