Canonical Allele Identifier: CA403632777

Gene: C3

Linked Data

• dbSNP Id: rs1202473363
• gnomAD v2: 19-6697417-C-A
• gnomAD v4: 19-6697406-C-A
• MyVariant Identifiers: chr19:g.6697417C>A (hg19) ; chr19:g.6697406C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1082G>T
ENST00000695652.1:c.2611G>T	ENSP00000512083.1:p.Val871Phe
ENST00000695653.1:c.643G>T	ENSP00000512084.1:p.Val215Phe
ENST00000695654.1:c.1858G>T	ENSP00000512085.1:p.Val620Phe
ENST00000695655.1:c.1675G>T	ENSP00000512086.1:n.1675G>T
ENST00000695692.1:n.2098G>T
ENST00000245907.11:c.2734G>T MANE Select	ENSP00000245907.4:p.Val912Phe
ENST00000245907.10:c.2734G>T	ENSP00000245907.4:p.Val912Phe
ENST00000594005.1:n.310G>T
NM_000064.3:c.2734G>T	NP_000055.2:p.Val912Phe
NM_000064.4:c.2734G>T MANE Select	NP_000055.2:p.Val912Phe