Canonical Allele Identifier: CA9129070

Gene: C3

Linked Data

• dbSNP Id: rs189364364
• ExAC: 19:6697850 G / A
• gnomAD v2: 19-6697850-G-A
• gnomAD v3: 19-6697839-G-A
• gnomAD v4: 19-6697839-G-A
• MyVariant Identifiers: chr19:g.6697850G>A (hg19) ; chr19:g.6697839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697839G>A , CM000681.2:g.6697839G>A	GRCh38
NC_000019.9:g.6697850G>A , CM000681.1:g.6697850G>A	GRCh37
NC_000019.8:g.6648850G>A	NCBI36
NG_009557.1:g.27813C>T , LRG_27:g.27813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-45C>T
ENST00000695652.1:c.2318-45C>T	ENSP00000512083.1:n.2318-45C>T
ENST00000695653.1:c.350-45C>T	ENSP00000512084.1:n.350-45C>T
ENST00000695654.1:c.1565-45C>T	ENSP00000512085.1:n.1565-45C>T
ENST00000695655.1:c.1382-45C>T	ENSP00000512086.1:n.1382-45C>T
ENST00000695692.1:n.1805-45C>T
ENST00000245907.11:c.2441-45C>T MANE Select	ENSP00000245907.4:n.2441-45C>T
ENST00000245907.10:c.2441-45C>T	ENSP00000245907.4:n.2441-45C>T
ENST00000602053.1:n.489-45C>T
NM_000064.3:c.2441-45C>T	NP_000055.2:n.2441-45C>T
NM_000064.4:c.2441-45C>T MANE Select	NP_000055.2:n.2441-45C>T