Canonical Allele Identifier: CA403619830

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686231C>G (hg19) ; chr19:g.6686220C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686220C>G , CM000681.2:g.6686220C>G	GRCh38
NC_000019.9:g.6686231C>G , CM000681.1:g.6686231C>G	GRCh37
NC_000019.8:g.6637231C>G	NCBI36
NG_009557.1:g.39432G>C , LRG_27:g.39432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2062G>C
ENST00000695652.1:c.3591G>C	ENSP00000512083.1:p.Leu1197Phe
ENST00000695653.1:c.1623G>C	ENSP00000512084.1:p.Leu541Phe
ENST00000695654.1:c.2739G>C	ENSP00000512085.1:p.Leu913Phe
ENST00000695655.1:c.2655G>C	ENSP00000512086.1:n.2655G>C
ENST00000695692.1:n.3078G>C
ENST00000245907.11:c.3714G>C MANE Select	ENSP00000245907.4:p.Leu1238Phe
ENST00000245907.10:c.3714G>C	ENSP00000245907.4:p.Leu1238Phe
ENST00000596238.1:n.157G>C
ENST00000601008.1:c.241+526G>C	ENSP00000471384.1:n.241+526G>C
NM_000064.3:c.3714G>C	NP_000055.2:p.Leu1238Phe
NM_000064.4:c.3714G>C MANE Select	NP_000055.2:p.Leu1238Phe