Canonical Allele Identifier: CA9128979

Gene: C3

Linked Data

• dbSNP Id: rs748941246
• ExAC: 19:6697405 C / T
• gnomAD v2: 19-6697405-C-T
• gnomAD v3: 19-6697394-C-T
• gnomAD v4: 19-6697394-C-T
• MyVariant Identifiers: chr19:g.6697405C>T (hg19) ; chr19:g.6697394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697394C>T , CM000681.2:g.6697394C>T	GRCh38
NC_000019.9:g.6697405C>T , CM000681.1:g.6697405C>T	GRCh37
NC_000019.8:g.6648405C>T	NCBI36
NG_009557.1:g.28258G>A , LRG_27:g.28258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1094G>A
ENST00000695652.1:c.2623G>A	ENSP00000512083.1:p.Val875Ile
ENST00000695653.1:c.655G>A	ENSP00000512084.1:p.Val219Ile
ENST00000695654.1:c.1870G>A	ENSP00000512085.1:p.Val624Ile
ENST00000695655.1:c.1687G>A	ENSP00000512086.1:n.1687G>A
ENST00000695692.1:n.2110G>A
ENST00000245907.11:c.2746G>A MANE Select	ENSP00000245907.4:p.Val916Ile
ENST00000245907.10:c.2746G>A	ENSP00000245907.4:p.Val916Ile
ENST00000594005.1:n.322G>A
NM_000064.3:c.2746G>A	NP_000055.2:p.Val916Ile
NM_000064.4:c.2746G>A MANE Select	NP_000055.2:p.Val916Ile