Canonical Allele Identifier: CA403619831

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686232A>C (hg19) ; chr19:g.6686221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686221A>C , CM000681.2:g.6686221A>C	GRCh38
NC_000019.9:g.6686232A>C , CM000681.1:g.6686232A>C	GRCh37
NC_000019.8:g.6637232A>C	NCBI36
NG_009557.1:g.39431T>G , LRG_27:g.39431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2061T>G
ENST00000695652.1:c.3590T>G	ENSP00000512083.1:p.Leu1197Trp
ENST00000695653.1:c.1622T>G	ENSP00000512084.1:p.Leu541Trp
ENST00000695654.1:c.2738T>G	ENSP00000512085.1:p.Leu913Trp
ENST00000695655.1:c.2654T>G	ENSP00000512086.1:n.2654T>G
ENST00000695692.1:n.3077T>G
ENST00000245907.11:c.3713T>G MANE Select	ENSP00000245907.4:p.Leu1238Trp
ENST00000245907.10:c.3713T>G	ENSP00000245907.4:p.Leu1238Trp
ENST00000596238.1:n.156T>G
ENST00000601008.1:c.241+525T>G	ENSP00000471384.1:n.241+525T>G
NM_000064.3:c.3713T>G	NP_000055.2:p.Leu1238Trp
NM_000064.4:c.3713T>G MANE Select	NP_000055.2:p.Leu1238Trp