Canonical Allele Identifier: CA403639537

Gene: C3

Linked Data

• gnomAD v4: 19-6709807-C-A
• MyVariant Identifiers: chr19:g.6709818C>A (hg19) ; chr19:g.6709807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709807C>A , CM000681.2:g.6709807C>A	GRCh38
NC_000019.9:g.6709818C>A , CM000681.1:g.6709818C>A	GRCh37
NC_000019.8:g.6660818C>A	NCBI36
NG_009557.1:g.15845G>T , LRG_27:g.15845G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1599G>T	ENSP00000512083.1:p.Gln533His
ENST00000695654.1:c.846G>T	ENSP00000512085.1:p.Gln282His
ENST00000695655.1:c.663G>T	ENSP00000512086.1:n.663G>T
ENST00000695692.1:n.1086G>T
ENST00000245907.11:c.1722G>T MANE Select	ENSP00000245907.4:p.Gln574His
ENST00000245907.10:c.1722G>T	ENSP00000245907.4:p.Gln574His
ENST00000600763.1:n.355G>T
NM_000064.3:c.1722G>T	NP_000055.2:p.Gln574His
NM_000064.4:c.1722G>T MANE Select	NP_000055.2:p.Gln574His