Canonical Allele Identifier: CA505123686
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6686198C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686187C>G , CM000681.2:g.6686187C>G GRCh38
NC_000019.9:g.6686198C>G , CM000681.1:g.6686198C>G GRCh37
NC_000019.8:g.6637198C>G NCBI36
NG_009557.1:g.39465G>C , LRG_27:g.39465G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2095G>C
ENST00000695652.1:c.3624G>C ENSP00000512083.1:p.Val1208=
ENST00000695653.1:c.1656G>C ENSP00000512084.1:p.Val552=
ENST00000695654.1:c.2772G>C ENSP00000512085.1:p.Val924=
ENST00000695655.1:c.2688G>C ENSP00000512086.1:n.2688G>C
ENST00000695692.1:n.3111G>C
ENST00000245907.11:c.3747G>C MANE Select ENSP00000245907.4:p.Val1249=
ENST00000245907.10:c.3747G>C ENSP00000245907.4:p.Val1249=
ENST00000596238.1:n.190G>C
ENST00000601008.1:c.241+559G>C ENSP00000471384.1:n.241+559G>C
NM_000064.3:c.3747G>C NP_000055.2:p.Val1249=
NM_000064.4:c.3747G>C MANE Select NP_000055.2:p.Val1249=