Canonical Allele Identifier: CA403633990

Gene: C3

Linked Data

• COSMIC: COSM5681806
• MyVariant Identifiers: chr19:g.6697742A>G (hg19) ; chr19:g.6697731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697731A>G , CM000681.2:g.6697731A>G	GRCh38
NC_000019.9:g.6697742A>G , CM000681.1:g.6697742A>G	GRCh37
NC_000019.8:g.6648742A>G	NCBI36
NG_009557.1:g.27921T>C , LRG_27:g.27921T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.852T>C
ENST00000695652.1:c.2381T>C	ENSP00000512083.1:p.Leu794Pro
ENST00000695653.1:c.413T>C	ENSP00000512084.1:p.Leu138Pro
ENST00000695654.1:c.1628T>C	ENSP00000512085.1:p.Leu543Pro
ENST00000695655.1:c.1445T>C	ENSP00000512086.1:n.1445T>C
ENST00000695692.1:n.1868T>C
ENST00000245907.11:c.2504T>C MANE Select	ENSP00000245907.4:p.Leu835Pro
ENST00000245907.10:c.2504T>C	ENSP00000245907.4:p.Leu835Pro
ENST00000602053.1:n.552T>C
NM_000064.3:c.2504T>C	NP_000055.2:p.Leu835Pro
NM_000064.4:c.2504T>C MANE Select	NP_000055.2:p.Leu835Pro