Canonical Allele Identifier: CA505193101

Gene: C3

Linked Data

• dbSNP Id: rs1258951351
• gnomAD v3: 19-6713289-C-G
• gnomAD v4: 19-6713289-C-G
• MyVariant Identifiers: chr19:g.6713300C>G (hg19) ; chr19:g.6713289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713289C>G , CM000681.2:g.6713289C>G	GRCh38
NC_000019.9:g.6713300C>G , CM000681.1:g.6713300C>G	GRCh37
NC_000019.8:g.6664300C>G	NCBI36
NG_009557.1:g.12363G>C , LRG_27:g.12363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.780G>C	ENSP00000512083.1:p.Val260=
ENST00000695654.1:c.27G>C	ENSP00000512085.1:p.Val9=
ENST00000695692.1:n.227G>C
ENST00000245907.11:c.903G>C MANE Select	ENSP00000245907.4:p.Val301=
ENST00000245907.10:c.903G>C	ENSP00000245907.4:p.Val301=
ENST00000594270.5:n.27G>C
ENST00000595577.1:n.407G>C
ENST00000597442.5:n.153G>C
NM_000064.3:c.903G>C	NP_000055.2:p.Val301=
NM_000064.4:c.903G>C MANE Select	NP_000055.2:p.Val301=