Canonical Allele Identifier: CA505123691
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6686216T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686205T>G , CM000681.2:g.6686205T>G GRCh38
NC_000019.9:g.6686216T>G , CM000681.1:g.6686216T>G GRCh37
NC_000019.8:g.6637216T>G NCBI36
NG_009557.1:g.39447A>C , LRG_27:g.39447A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2077A>C
ENST00000695652.1:c.3606A>C ENSP00000512083.1:p.Leu1202=
ENST00000695653.1:c.1638A>C ENSP00000512084.1:p.Leu546=
ENST00000695654.1:c.2754A>C ENSP00000512085.1:p.Leu918=
ENST00000695655.1:c.2670A>C ENSP00000512086.1:n.2670A>C
ENST00000695692.1:n.3093A>C
ENST00000245907.11:c.3729A>C MANE Select ENSP00000245907.4:p.Leu1243=
ENST00000245907.10:c.3729A>C ENSP00000245907.4:p.Leu1243=
ENST00000596238.1:n.172A>C
ENST00000601008.1:c.241+541A>C ENSP00000471384.1:n.241+541A>C
NM_000064.3:c.3729A>C NP_000055.2:p.Leu1243=
NM_000064.4:c.3729A>C MANE Select NP_000055.2:p.Leu1243=