Canonical Allele Identifier: CA9128653

Gene: C3

Linked Data

• dbSNP Id: rs773963253
• ExAC: 19:6686219 C / A
• gnomAD v2: 19-6686219-C-A
• gnomAD v4: 19-6686208-C-A
• MyVariant Identifiers: chr19:g.6686219C>A (hg19) ; chr19:g.6686208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686208C>A , CM000681.2:g.6686208C>A	GRCh38
NC_000019.9:g.6686219C>A , CM000681.1:g.6686219C>A	GRCh37
NC_000019.8:g.6637219C>A	NCBI36
NG_009557.1:g.39444G>T , LRG_27:g.39444G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2074G>T
ENST00000695652.1:c.3603G>T	ENSP00000512083.1:p.Gln1201His
ENST00000695653.1:c.1635G>T	ENSP00000512084.1:p.Gln545His
ENST00000695654.1:c.2751G>T	ENSP00000512085.1:p.Gln917His
ENST00000695655.1:c.2667G>T	ENSP00000512086.1:n.2667G>T
ENST00000695692.1:n.3090G>T
ENST00000245907.11:c.3726G>T MANE Select	ENSP00000245907.4:p.Gln1242His
ENST00000245907.10:c.3726G>T	ENSP00000245907.4:p.Gln1242His
ENST00000596238.1:n.169G>T
ENST00000601008.1:c.241+538G>T	ENSP00000471384.1:n.241+538G>T
NM_000064.3:c.3726G>T	NP_000055.2:p.Gln1242His
NM_000064.4:c.3726G>T MANE Select	NP_000055.2:p.Gln1242His