Canonical Allele Identifier: CA505123700
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6686227G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686216G>A , CM000681.2:g.6686216G>A GRCh38
NC_000019.9:g.6686227G>A , CM000681.1:g.6686227G>A GRCh37
NC_000019.8:g.6637227G>A NCBI36
NG_009557.1:g.39436C>T , LRG_27:g.39436C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2066C>T
ENST00000695652.1:c.3595C>T ENSP00000512083.1:p.Leu1199=
ENST00000695653.1:c.1627C>T ENSP00000512084.1:p.Leu543=
ENST00000695654.1:c.2743C>T ENSP00000512085.1:p.Leu915=
ENST00000695655.1:c.2659C>T ENSP00000512086.1:n.2659C>T
ENST00000695692.1:n.3082C>T
ENST00000245907.11:c.3718C>T MANE Select ENSP00000245907.4:p.Leu1240=
ENST00000245907.10:c.3718C>T ENSP00000245907.4:p.Leu1240=
ENST00000596238.1:n.161C>T
ENST00000601008.1:c.241+530C>T ENSP00000471384.1:n.241+530C>T
NM_000064.3:c.3718C>T NP_000055.2:p.Leu1240=
NM_000064.4:c.3718C>T MANE Select NP_000055.2:p.Leu1240=