Canonical Allele Identifier: CA505192246

Gene: C3

Linked Data

• gnomAD v4: 19-6697380-G-A
• MyVariant Identifiers: chr19:g.6697391G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697380G>A , CM000681.2:g.6697380G>A	GRCh38
NC_000019.9:g.6697391G>A , CM000681.1:g.6697391G>A	GRCh37
NC_000019.8:g.6648391G>A	NCBI36
NG_009557.1:g.28272C>T , LRG_27:g.28272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1108C>T
ENST00000695652.1:c.2637C>T	ENSP00000512083.1:p.Phe879=
ENST00000695653.1:c.669C>T	ENSP00000512084.1:p.Phe223=
ENST00000695654.1:c.1884C>T	ENSP00000512085.1:p.Phe628=
ENST00000695655.1:c.1701C>T	ENSP00000512086.1:n.1701C>T
ENST00000695692.1:n.2124C>T
ENST00000245907.11:c.2760C>T MANE Select	ENSP00000245907.4:p.Phe920=
ENST00000245907.10:c.2760C>T	ENSP00000245907.4:p.Phe920=
ENST00000594005.1:n.336C>T
NM_000064.3:c.2760C>T	NP_000055.2:p.Phe920=
NM_000064.4:c.2760C>T MANE Select	NP_000055.2:p.Phe920=