Canonical Allele Identifier: CA36674395
Gene: CD46 HGNC NCBI
C1orf132 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs11118555

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207767508T>A , CM000663.2:g.207767508T>A GRCh38
NC_000001.10:g.207940853T>A , CM000663.1:g.207940853T>A GRCh37
NC_000001.9:g.206007476T>A NCBI36
NG_009296.1:g.20452T>A , LRG_155:g.20452T>A

Transcript Alleles

HGVS Amino-acid change
NM_002389.4:c.857-99T>A , LRG_155t1:c.857-99T>A (CD46) NP_002380.3:p.=
NM_153826.3:c.857-271T>A (CD46) VV NP_722548.1:p.=
NM_172350.2:c.856+313T>A (CD46) VV NP_758860.1:p.=
NM_172351.2:c.857-271T>A (CD46) VV NP_758861.1:p.=
NM_172352.2:c.856+313T>A (CD46) VV NP_758862.1:p.=
NM_172353.2:c.856+313T>A (CD46) VV NP_758863.1:p.=
NM_172359.2:c.857-99T>A (CD46) VV NP_758869.1:p.=
NM_172361.2:c.856+313T>A (CD46) VV NP_758871.1:p.=
XM_011509563.1:c.857-99T>A (CD46) XP_011507865.1:p.=
XM_011509564.1:c.857-271T>A (CD46) XP_011507866.1:p.=
XR_922496.1:n.7667-4520A>T (C1orf132)
XR_922497.1:n.6306-4520A>T (C1orf132)
NM_172355.2:c.857-271T>A (CD46) VV NP_758865.1:p.=
NM_172356.2:c.857-271T>A (CD46) VV NP_758866.1:p.=
NM_172357.2:c.856+313T>A (CD46) VV NP_758867.1:p.=
NM_172358.2:c.857-271T>A (CD46) VV NP_758868.1:p.=
XM_011509563.2:c.857-99T>A (CD46) XP_011507865.1:p.=
XM_017001308.2:c.857-99T>A (CD46) XP_016856797.1:p.=
XR_001737177.2:n.1014-99T>A (CD46)
XR_002956621.1:n.1326T>A (CD46)
XR_002956622.1:n.1326T>A (CD46)
ENST00000322875.8:c.857-99T>A ENSP00000313875.4:p.=
ENST00000322918.9:c.856+313T>A ENSP00000314664.5:p.=
ENST00000354848.5:c.857-271T>A ENSP00000346912.1:p.=
ENST00000357714.5:c.856+313T>A ENSP00000350346.1:p.=
ENST00000358170.6:c.857-99T>A ENSP00000350893.2:p.=
ENST00000360212.6:c.856+313T>A ENSP00000353342.2:p.=
ENST00000367041.5:c.856+313T>A ENSP00000356008.1:p.=
ENST00000367042.5:c.857-271T>A ENSP00000356009.1:p.=
ENST00000367047.5:c.668-99T>A ENSP00000356014.1:p.=
ENST00000469535.5:n.2838T>A
ENST00000480003.5:c.857-271T>A ENSP00000418471.1:p.=
ENST00000496723.1:n.304T>A