Canonical Allele Identifier: CA403632662

Gene: C3

Linked Data

• gnomAD v4: 19-6697380-G-T
• MyVariant Identifiers: chr19:g.6697391G>T (hg19) ; chr19:g.6697380G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1108C>A
ENST00000695652.1:c.2637C>A	ENSP00000512083.1:p.Phe879Leu
ENST00000695653.1:c.669C>A	ENSP00000512084.1:p.Phe223Leu
ENST00000695654.1:c.1884C>A	ENSP00000512085.1:p.Phe628Leu
ENST00000695655.1:c.1701C>A	ENSP00000512086.1:n.1701C>A
ENST00000695692.1:n.2124C>A
ENST00000245907.11:c.2760C>A MANE Select	ENSP00000245907.4:p.Phe920Leu
ENST00000245907.10:c.2760C>A	ENSP00000245907.4:p.Phe920Leu
ENST00000594005.1:n.336C>A
NM_000064.3:c.2760C>A	NP_000055.2:p.Phe920Leu
NM_000064.4:c.2760C>A MANE Select	NP_000055.2:p.Phe920Leu