Canonical Allele Identifier: CA403632488

Gene: C3

Linked Data

• dbSNP Id: rs1967560165
• gnomAD v4: 19-6697350-C-A
• MyVariant Identifiers: chr19:g.6697361C>A (hg19) ; chr19:g.6697350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697350C>A , CM000681.2:g.6697350C>A	GRCh38
NC_000019.9:g.6697361C>A , CM000681.1:g.6697361C>A	GRCh37
NC_000019.8:g.6648361C>A	NCBI36
NG_009557.1:g.28302G>T , LRG_27:g.28302G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1138G>T
ENST00000695652.1:c.2667G>T	ENSP00000512083.1:p.Lys889Asn
ENST00000695653.1:c.699G>T	ENSP00000512084.1:p.Lys233Asn
ENST00000695654.1:c.1914G>T	ENSP00000512085.1:p.Lys638Asn
ENST00000695655.1:c.1731G>T	ENSP00000512086.1:n.1731G>T
ENST00000695692.1:n.2154G>T
ENST00000245907.11:c.2790G>T MANE Select	ENSP00000245907.4:p.Lys930Asn
ENST00000245907.10:c.2790G>T	ENSP00000245907.4:p.Lys930Asn
ENST00000594005.1:n.366G>T
NM_000064.3:c.2790G>T	NP_000055.2:p.Lys930Asn
NM_000064.4:c.2790G>T MANE Select	NP_000055.2:p.Lys930Asn