Canonical Allele Identifier: CA505123598
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1203882117

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685144G>A , CM000681.2:g.6685144G>A GRCh38
NC_000019.9:g.6685155G>A , CM000681.1:g.6685155G>A GRCh37
NC_000019.8:g.6636155G>A NCBI36
NG_009557.1:g.40508C>T , LRG_27:g.40508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2161C>T
ENST00000695653.1:c.1722C>T ENSP00000512084.1:p.Ala574=
ENST00000695654.1:c.2838C>T ENSP00000512085.1:p.Ala946=
ENST00000695690.1:n.4C>T
ENST00000695691.1:n.4C>T
ENST00000245907.11:c.3813C>T MANE Select ENSP00000245907.4:p.Ala1271=
ENST00000245907.10:c.3813C>T ENSP00000245907.4:p.Ala1271=
ENST00000596238.1:n.256C>T
ENST00000601008.1:c.241+1602C>T ENSP00000471384.1:n.241+1602C>T
NM_000064.3:c.3813C>T NP_000055.2:p.Ala1271=
NM_000064.4:c.3813C>T MANE Select NP_000055.2:p.Ala1271=