Canonical Allele Identifier: CA9129428

Gene: C3

Linked Data

• dbSNP Id: rs372282600
• ExAC: 19:6710870 C / A
• gnomAD v2: 19-6710870-C-A
• gnomAD v3: 19-6710859-C-A
• gnomAD v4: 19-6710859-C-A
• MyVariant Identifiers: chr19:g.6710870C>A (hg19) ; chr19:g.6710859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710859C>A , CM000681.2:g.6710859C>A	GRCh38
NC_000019.9:g.6710870C>A , CM000681.1:g.6710870C>A	GRCh37
NC_000019.8:g.6661870C>A	NCBI36
NG_009557.1:g.14793G>T , LRG_27:g.14793G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1357-14G>T	ENSP00000512083.1:n.1357-14G>T
ENST00000695654.1:c.604-14G>T	ENSP00000512085.1:n.604-14G>T
ENST00000695655.1:c.371G>T	ENSP00000512086.1:p.Ser124Ile
ENST00000695692.1:n.844-14G>T
ENST00000245907.11:c.1480-14G>T MANE Select	ENSP00000245907.4:n.1480-14G>T
ENST00000245907.10:c.1480-14G>T	ENSP00000245907.4:n.1480-14G>T
ENST00000600763.1:n.99G>T
NM_000064.3:c.1480-14G>T	NP_000055.2:n.1480-14G>T
NM_000064.4:c.1480-14G>T MANE Select	NP_000055.2:n.1480-14G>T