Canonical Allele Identifier: CA9128991

Gene: C3

Linked Data

• dbSNP Id: rs763155610
• ExAC: 19:6697451 G / A
• gnomAD v2: 19-6697451-G-A
• gnomAD v3: 19-6697440-G-A
• gnomAD v4: 19-6697440-G-A
• MyVariant Identifiers: chr19:g.6697451G>A (hg19) ; chr19:g.6697440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697440G>A , CM000681.2:g.6697440G>A	GRCh38
NC_000019.9:g.6697451G>A , CM000681.1:g.6697451G>A	GRCh37
NC_000019.8:g.6648451G>A	NCBI36
NG_009557.1:g.28212C>T , LRG_27:g.28212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1048C>T
ENST00000695652.1:c.2577C>T	ENSP00000512083.1:p.Ile859=
ENST00000695653.1:c.609C>T	ENSP00000512084.1:p.Ile203=
ENST00000695654.1:c.1824C>T	ENSP00000512085.1:p.Ile608=
ENST00000695655.1:c.1641C>T	ENSP00000512086.1:n.1641C>T
ENST00000695692.1:n.2064C>T
ENST00000245907.11:c.2700C>T MANE Select	ENSP00000245907.4:p.Ile900=
ENST00000245907.10:c.2700C>T	ENSP00000245907.4:p.Ile900=
ENST00000594005.1:n.276C>T
NM_000064.3:c.2700C>T	NP_000055.2:p.Ile900=
NM_000064.4:c.2700C>T MANE Select	NP_000055.2:p.Ile900=