Canonical Allele Identifier: CA403633949

Gene: C3

Linked Data

• gnomAD v4: 19-6697709-G-T
• MyVariant Identifiers: chr19:g.6697720G>T (hg19) ; chr19:g.6697709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697709G>T , CM000681.2:g.6697709G>T	GRCh38
NC_000019.9:g.6697720G>T , CM000681.1:g.6697720G>T	GRCh37
NC_000019.8:g.6648720G>T	NCBI36
NG_009557.1:g.27943C>A , LRG_27:g.27943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.874C>A
ENST00000695652.1:c.2403C>A	ENSP00000512083.1:p.Asn801Lys
ENST00000695653.1:c.435C>A	ENSP00000512084.1:p.Asn145Lys
ENST00000695654.1:c.1650C>A	ENSP00000512085.1:p.Asn550Lys
ENST00000695655.1:c.1467C>A	ENSP00000512086.1:n.1467C>A
ENST00000695692.1:n.1890C>A
ENST00000245907.11:c.2526C>A MANE Select	ENSP00000245907.4:p.Asn842Lys
ENST00000245907.10:c.2526C>A	ENSP00000245907.4:p.Asn842Lys
ENST00000594005.1:n.7C>A
ENST00000602053.1:n.574C>A
NM_000064.3:c.2526C>A	NP_000055.2:p.Asn842Lys
NM_000064.4:c.2526C>A MANE Select	NP_000055.2:p.Asn842Lys