Canonical Allele Identifier: CA505122443
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682223-C-G
MyVariant Identifiers: chr19:g.6682234C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682223C>G , CM000681.2:g.6682223C>G GRCh38
NC_000019.9:g.6682234C>G , CM000681.1:g.6682234C>G GRCh37
NC_000019.8:g.6633234C>G NCBI36
NG_009557.1:g.43429G>C , LRG_27:g.43429G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2527G>C
ENST00000695653.1:c.2088G>C ENSP00000512084.1:p.Arg696=
ENST00000695654.1:c.3204G>C ENSP00000512085.1:p.Arg1068=
ENST00000695689.1:c.150G>C ENSP00000512101.1:n.150G>C
ENST00000695690.1:n.370G>C
ENST00000695691.1:n.370G>C
ENST00000245907.11:c.4179G>C MANE Select ENSP00000245907.4:p.Arg1393=
ENST00000245907.10:c.4179G>C ENSP00000245907.4:p.Arg1393=
ENST00000596548.1:c.300G>C ENSP00000469744.1:p.Arg100=
ENST00000599899.5:n.1138G>C
ENST00000601008.1:c.242-4265G>C ENSP00000471384.1:n.242-4265G>C
NM_000064.3:c.4179G>C NP_000055.2:p.Arg1393=
NM_000064.4:c.4179G>C MANE Select NP_000055.2:p.Arg1393=