Canonical Allele Identifier: CA403639647

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6709850C>G (hg19) ; chr19:g.6709839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709839C>G , CM000681.2:g.6709839C>G	GRCh38
NC_000019.9:g.6709850C>G , CM000681.1:g.6709850C>G	GRCh37
NC_000019.8:g.6660850C>G	NCBI36
NG_009557.1:g.15813G>C , LRG_27:g.15813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1567G>C	ENSP00000512083.1:p.Val523Leu
ENST00000695654.1:c.814G>C	ENSP00000512085.1:p.Val272Leu
ENST00000695655.1:c.631G>C	ENSP00000512086.1:n.631G>C
ENST00000695692.1:n.1054G>C
ENST00000245907.11:c.1690G>C MANE Select	ENSP00000245907.4:p.Val564Leu
ENST00000245907.10:c.1690G>C	ENSP00000245907.4:p.Val564Leu
ENST00000600763.1:n.323G>C
NM_000064.3:c.1690G>C	NP_000055.2:p.Val564Leu
NM_000064.4:c.1690G>C MANE Select	NP_000055.2:p.Val564Leu