Canonical Allele Identifier: CA403632863

Gene: C3

Linked Data

• dbSNP Id: rs1198580081
• gnomAD v2: 19-6697435-C-T
• gnomAD v3: 19-6697424-C-T
• gnomAD v4: 19-6697424-C-T
• MyVariant Identifiers: chr19:g.6697435C>T (hg19) ; chr19:g.6697424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697424C>T , CM000681.2:g.6697424C>T	GRCh38
NC_000019.9:g.6697435C>T , CM000681.1:g.6697435C>T	GRCh37
NC_000019.8:g.6648435C>T	NCBI36
NG_009557.1:g.28228G>A , LRG_27:g.28228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1064G>A
ENST00000695652.1:c.2593G>A	ENSP00000512083.1:p.Gly865Ser
ENST00000695653.1:c.625G>A	ENSP00000512084.1:p.Gly209Ser
ENST00000695654.1:c.1840G>A	ENSP00000512085.1:p.Gly614Ser
ENST00000695655.1:c.1657G>A	ENSP00000512086.1:n.1657G>A
ENST00000695692.1:n.2080G>A
ENST00000245907.11:c.2716G>A MANE Select	ENSP00000245907.4:p.Gly906Ser
ENST00000245907.10:c.2716G>A	ENSP00000245907.4:p.Gly906Ser
ENST00000594005.1:n.292G>A
NM_000064.3:c.2716G>A	NP_000055.2:p.Gly906Ser
NM_000064.4:c.2716G>A MANE Select	NP_000055.2:p.Gly906Ser