Canonical Allele Identifier: CA403633967

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697730A>G (hg19) ; chr19:g.6697719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697719A>G , CM000681.2:g.6697719A>G	GRCh38
NC_000019.9:g.6697730A>G , CM000681.1:g.6697730A>G	GRCh37
NC_000019.8:g.6648730A>G	NCBI36
NG_009557.1:g.27933T>C , LRG_27:g.27933T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.864T>C
ENST00000695652.1:c.2393T>C	ENSP00000512083.1:p.Val798Ala
ENST00000695653.1:c.425T>C	ENSP00000512084.1:p.Val142Ala
ENST00000695654.1:c.1640T>C	ENSP00000512085.1:p.Val547Ala
ENST00000695655.1:c.1457T>C	ENSP00000512086.1:n.1457T>C
ENST00000695692.1:n.1880T>C
ENST00000245907.11:c.2516T>C MANE Select	ENSP00000245907.4:p.Val839Ala
ENST00000245907.10:c.2516T>C	ENSP00000245907.4:p.Val839Ala
ENST00000602053.1:n.564T>C
NM_000064.3:c.2516T>C	NP_000055.2:p.Val839Ala
NM_000064.4:c.2516T>C MANE Select	NP_000055.2:p.Val839Ala