Canonical Allele Identifier: CA403632778

Gene: C3

Linked Data

• dbSNP Id: rs1202473363
• MyVariant Identifiers: chr19:g.6697417C>G (hg19) ; chr19:g.6697406C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697406C>G , CM000681.2:g.6697406C>G	GRCh38
NC_000019.9:g.6697417C>G , CM000681.1:g.6697417C>G	GRCh37
NC_000019.8:g.6648417C>G	NCBI36
NG_009557.1:g.28246G>C , LRG_27:g.28246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1082G>C
ENST00000695652.1:c.2611G>C	ENSP00000512083.1:p.Val871Leu
ENST00000695653.1:c.643G>C	ENSP00000512084.1:p.Val215Leu
ENST00000695654.1:c.1858G>C	ENSP00000512085.1:p.Val620Leu
ENST00000695655.1:c.1675G>C	ENSP00000512086.1:n.1675G>C
ENST00000695692.1:n.2098G>C
ENST00000245907.11:c.2734G>C MANE Select	ENSP00000245907.4:p.Val912Leu
ENST00000245907.10:c.2734G>C	ENSP00000245907.4:p.Val912Leu
ENST00000594005.1:n.310G>C
NM_000064.3:c.2734G>C	NP_000055.2:p.Val912Leu
NM_000064.4:c.2734G>C MANE Select	NP_000055.2:p.Val912Leu