Canonical Allele Identifier: CA505123706

Gene: C3

Linked Data

• gnomAD v4: 19-6686223-G-A
• MyVariant Identifiers: chr19:g.6686234G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686223G>A , CM000681.2:g.6686223G>A	GRCh38
NC_000019.9:g.6686234G>A , CM000681.1:g.6686234G>A	GRCh37
NC_000019.8:g.6637234G>A	NCBI36
NG_009557.1:g.39429C>T , LRG_27:g.39429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2059C>T
ENST00000695652.1:c.3588C>T	ENSP00000512083.1:p.Leu1196=
ENST00000695653.1:c.1620C>T	ENSP00000512084.1:p.Leu540=
ENST00000695654.1:c.2736C>T	ENSP00000512085.1:p.Leu912=
ENST00000695655.1:c.2652C>T	ENSP00000512086.1:n.2652C>T
ENST00000695692.1:n.3075C>T
ENST00000245907.11:c.3711C>T MANE Select	ENSP00000245907.4:p.Leu1237=
ENST00000245907.10:c.3711C>T	ENSP00000245907.4:p.Leu1237=
ENST00000596238.1:n.154C>T
ENST00000601008.1:c.241+523C>T	ENSP00000471384.1:n.241+523C>T
NM_000064.3:c.3711C>T	NP_000055.2:p.Leu1237=
NM_000064.4:c.3711C>T MANE Select	NP_000055.2:p.Leu1237=