Canonical Allele Identifier: CA422967319

Gene: CD46

Linked Data

• ClinVar Variation Id: 2815618
• ClinVar RCV Id: RCV003685509
• dbSNP Id: rs1656182924
• MyVariant Identifiers: chr1:g.207934670T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207761325T>C , CM000663.2:g.207761325T>C	GRCh38
NC_000001.10:g.207934670T>C , CM000663.1:g.207934670T>C	GRCh37
NC_000001.9:g.206001293T>C	NCBI36
NG_009296.1:g.14269T>C , LRG_155:g.14269T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496723.2:n.720T>C
ENST00000636114.2:n.713T>C
ENST00000695777.1:c.552T>C	ENSP00000512167.1:p.Leu184=
ENST00000695778.1:c.552T>C	ENSP00000512168.1:p.Leu184=
ENST00000695779.1:n.728T>C
ENST00000695780.1:c.552T>C	ENSP00000512169.1:p.Leu184=
ENST00000695781.1:c.552T>C	ENSP00000512170.1:p.Leu184=
ENST00000695782.1:c.552T>C	ENSP00000512171.1:p.Leu184=
ENST00000695783.1:n.704T>C
ENST00000695784.1:c.552T>C	ENSP00000512172.1:p.Leu184=
ENST00000695785.1:n.478T>C
ENST00000367042.6:c.552T>C MANE Select	ENSP00000356009.1:p.Leu184=
ENST00000322875.8:c.552T>C	ENSP00000313875.4:p.Leu184=
ENST00000322918.9:c.552T>C	ENSP00000314664.5:p.Leu184=
ENST00000354848.5:c.552T>C	ENSP00000346912.1:p.Leu184=
ENST00000357714.5:c.552T>C	ENSP00000350346.1:p.Leu184=
ENST00000358170.6:c.552T>C	ENSP00000350893.2:p.Leu184=
ENST00000360212.6:c.552T>C	ENSP00000353342.2:p.Leu184=
ENST00000367041.5:c.552T>C	ENSP00000356008.1:p.Leu184=
ENST00000367042.5:c.552T>C	ENSP00000356009.1:p.Leu184=
ENST00000367047.5:c.363T>C	ENSP00000356014.1:p.Leu121=
ENST00000464082.1:n.341T>C
ENST00000469535.5:n.2221T>C
ENST00000480003.5:c.552T>C	ENSP00000418471.1:p.Leu184=
NM_002389.4:c.552T>C , LRG_155t1:c.552T>C	NP_002380.3:p.Leu184=
NM_153826.3:c.552T>C	NP_722548.1:p.Leu184=
NM_172350.2:c.552T>C	NP_758860.1:p.Leu184=
NM_172351.2:c.552T>C	NP_758861.1:p.Leu184=
NM_172352.2:c.552T>C	NP_758862.1:p.Leu184=
NM_172353.2:c.552T>C	NP_758863.1:p.Leu184=
NM_172359.2:c.552T>C	NP_758869.1:p.Leu184=
NM_172361.2:c.552T>C	NP_758871.1:p.Leu184=
XM_011509563.1:c.552T>C	XP_011507865.1:p.Leu184=
XM_011509564.1:c.552T>C	XP_011507866.1:p.Leu184=
NM_172355.2:c.552T>C	NP_758865.1:p.Leu184=
NM_172356.2:c.552T>C	NP_758866.1:p.Leu184=
NM_172357.2:c.552T>C	NP_758867.1:p.Leu184=
NM_172358.2:c.552T>C	NP_758868.1:p.Leu184=
XM_011509563.2:c.552T>C	XP_011507865.1:p.Leu184=
XM_017001308.2:c.552T>C	XP_016856797.1:p.Leu184=
XR_001737177.2:n.709T>C
XR_002956621.1:n.709T>C
XR_002956622.1:n.709T>C
NM_153826.4:c.552T>C	NP_722548.1:p.Leu184=
NM_172350.3:c.552T>C	NP_758860.1:p.Leu184=
NM_172351.3:c.552T>C MANE Select	NP_758861.1:p.Leu184=
NM_172352.3:c.552T>C	NP_758862.1:p.Leu184=
NM_172353.3:c.552T>C	NP_758863.1:p.Leu184=
NM_172355.3:c.552T>C	NP_758865.1:p.Leu184=
NM_172356.3:c.552T>C	NP_758866.1:p.Leu184=
NM_172357.3:c.552T>C	NP_758867.1:p.Leu184=
NM_172358.3:c.552T>C	NP_758868.1:p.Leu184=
NM_172359.3:c.552T>C	NP_758869.1:p.Leu184=
NM_172361.3:c.552T>C	NP_758871.1:p.Leu184=