Canonical Allele Identifier: CA403632704

Gene: C3

Linked Data

• dbSNP Id: rs1220923821
• gnomAD v2: 19-6697399-G-A
• gnomAD v4: 19-6697388-G-A
• MyVariant Identifiers: chr19:g.6697399G>A (hg19) ; chr19:g.6697388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697388G>A , CM000681.2:g.6697388G>A	GRCh38
NC_000019.9:g.6697399G>A , CM000681.1:g.6697399G>A	GRCh37
NC_000019.8:g.6648399G>A	NCBI36
NG_009557.1:g.28264C>T , LRG_27:g.28264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1100C>T
ENST00000695652.1:c.2629C>T	ENSP00000512083.1:p.His877Tyr
ENST00000695653.1:c.661C>T	ENSP00000512084.1:p.His221Tyr
ENST00000695654.1:c.1876C>T	ENSP00000512085.1:p.His626Tyr
ENST00000695655.1:c.1693C>T	ENSP00000512086.1:n.1693C>T
ENST00000695692.1:n.2116C>T
ENST00000245907.11:c.2752C>T MANE Select	ENSP00000245907.4:p.His918Tyr
ENST00000245907.10:c.2752C>T	ENSP00000245907.4:p.His918Tyr
ENST00000594005.1:n.328C>T
NM_000064.3:c.2752C>T	NP_000055.2:p.His918Tyr
NM_000064.4:c.2752C>T MANE Select	NP_000055.2:p.His918Tyr