Canonical Allele Identifier: CA9129839

Gene: C3

Linked Data

• ClinVar Variation Id: 1901580
• ClinVar RCV Id: RCV002576723
• dbSNP Id: rs757350547
• ExAC: 19:6718298 G / A
• gnomAD v2: 19-6718298-G-A
• gnomAD v3: 19-6718287-G-A
• gnomAD v4: 19-6718287-G-A
• MyVariant Identifiers: chr19:g.6718298G>A (hg19) ; chr19:g.6718287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6718287G>A , CM000681.2:g.6718287G>A	GRCh38
NC_000019.9:g.6718298G>A , CM000681.1:g.6718298G>A	GRCh37
NC_000019.8:g.6669298G>A	NCBI36
NG_009557.1:g.7365C>T , LRG_27:g.7365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594936.2:n.454C>T
ENST00000695652.1:c.270C>T	ENSP00000512083.1:p.Phe90=
ENST00000695693.1:c.393C>T	ENSP00000512104.1:p.Phe131=
ENST00000245907.11:c.393C>T MANE Select	ENSP00000245907.4:p.Phe131=
ENST00000245907.10:c.393C>T	ENSP00000245907.4:p.Phe131=
ENST00000594936.1:n.454C>T
ENST00000600744.1:c.270C>T	ENSP00000472044.1:p.Phe90=
NM_000064.3:c.393C>T	NP_000055.2:p.Phe131=
NM_000064.4:c.393C>T MANE Select	NP_000055.2:p.Phe131=