Canonical Allele Identifier: CA403642160

Gene: C3

Linked Data

• ClinVar Variation Id: 2881190
• ClinVar RCV Id: RCV003715806
• gnomAD v4: 19-6713245-G-A
• MyVariant Identifiers: chr19:g.6713256G>A (hg19) ; chr19:g.6713245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713245G>A , CM000681.2:g.6713245G>A	GRCh38
NC_000019.9:g.6713256G>A , CM000681.1:g.6713256G>A	GRCh37
NC_000019.8:g.6664256G>A	NCBI36
NG_009557.1:g.12407C>T , LRG_27:g.12407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.824C>T	ENSP00000512083.1:p.Ala275Val
ENST00000695654.1:c.71C>T	ENSP00000512085.1:p.Ala24Val
ENST00000695692.1:n.271C>T
ENST00000245907.11:c.947C>T MANE Select	ENSP00000245907.4:p.Ala316Val
ENST00000245907.10:c.947C>T	ENSP00000245907.4:p.Ala316Val
ENST00000594270.5:n.71C>T
ENST00000595577.1:n.451C>T
ENST00000597442.5:n.197C>T
NM_000064.3:c.947C>T	NP_000055.2:p.Ala316Val
NM_000064.4:c.947C>T MANE Select	NP_000055.2:p.Ala316Val