Canonical Allele Identifier: CA505120504
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1568209403
MyVariant Identifiers: chr19:g.6679482A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679471A>G , CM000681.2:g.6679471A>G GRCh38
NC_000019.9:g.6679482A>G , CM000681.1:g.6679482A>G GRCh37
NC_000019.8:g.6630482A>G NCBI36
NG_009557.1:g.46181T>C , LRG_27:g.46181T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2830T>C
ENST00000695653.1:c.2391T>C ENSP00000512084.1:p.His797=
ENST00000695654.1:c.3507T>C ENSP00000512085.1:p.His1169=
ENST00000695689.1:c.453T>C ENSP00000512101.1:n.453T>C
ENST00000695690.1:n.1547T>C
ENST00000695691.1:n.1343T>C
ENST00000245907.11:c.4482T>C MANE Select ENSP00000245907.4:p.His1494=
ENST00000245907.10:c.4482T>C ENSP00000245907.4:p.His1494=
ENST00000599668.1:n.77T>C
ENST00000599899.5:n.1441T>C
ENST00000601008.1:c.242-1513T>C ENSP00000471384.1:n.242-1513T>C
NM_000064.3:c.4482T>C NP_000055.2:p.His1494=
NM_000064.4:c.4482T>C MANE Select NP_000055.2:p.His1494=