Canonical Allele Identifier: CA9128656

Gene: C3

Linked Data

• dbSNP Id: rs751291448
• ExAC: 19:6686238 G / T
• gnomAD v2: 19-6686238-G-T
• gnomAD v4: 19-6686227-G-T
• MyVariant Identifiers: chr19:g.6686238G>T (hg19) ; chr19:g.6686227G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686227G>T , CM000681.2:g.6686227G>T	GRCh38
NC_000019.9:g.6686238G>T , CM000681.1:g.6686238G>T	GRCh37
NC_000019.8:g.6637238G>T	NCBI36
NG_009557.1:g.39425C>A , LRG_27:g.39425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2055C>A
ENST00000695652.1:c.3584C>A	ENSP00000512083.1:p.Ala1195Asp
ENST00000695653.1:c.1616C>A	ENSP00000512084.1:p.Ala539Asp
ENST00000695654.1:c.2732C>A	ENSP00000512085.1:p.Ala911Asp
ENST00000695655.1:c.2648C>A	ENSP00000512086.1:n.2648C>A
ENST00000695692.1:n.3071C>A
ENST00000245907.11:c.3707C>A MANE Select	ENSP00000245907.4:p.Ala1236Asp
ENST00000245907.10:c.3707C>A	ENSP00000245907.4:p.Ala1236Asp
ENST00000596238.1:n.150C>A
ENST00000601008.1:c.241+519C>A	ENSP00000471384.1:n.241+519C>A
NM_000064.3:c.3707C>A	NP_000055.2:p.Ala1236Asp
NM_000064.4:c.3707C>A MANE Select	NP_000055.2:p.Ala1236Asp