Canonical Allele Identifier: CA566314
Gene: CAMTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501513
dbSNP Id: rs753954585
gnomAD v2: 1-7723485-G-A
gnomAD v3: 1-7663425-G-A
gnomAD v4: 1-7663425-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7663425G>A , CM000663.2:g.7663425G>A GRCh38
NC_000001.10:g.7723485G>A , CM000663.1:g.7723485G>A GRCh37
NC_000001.9:g.7646072G>A NCBI36
NG_053148.1:g.883102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476864.2:c.878G>A ENSP00000452319.2:p.Arg293Gln
ENST00000700414.1:c.*729G>A ENSP00000514978.1:n.*729G>A
ENST00000700415.1:c.788G>A ENSP00000514979.1:p.Arg263Gln
ENST00000700417.1:c.806G>A ENSP00000514981.1:p.Arg269Gln
ENST00000700444.1:c.*647G>A ENSP00000514992.1:n.*647G>A
ENST00000303635.12:c.878G>A MANE Select ENSP00000306522.6:p.Arg293Gln
ENST00000303635.11:c.878G>A ENSP00000306522.6:p.Arg293Gln
NM_015215.3:c.878G>A NP_056030.1:p.Arg293Gln
XM_011541083.1:c.878G>A XP_011539385.1:p.Arg293Gln
XM_011541084.1:c.878G>A XP_011539386.1:p.Arg293Gln
XM_011541085.1:c.866G>A XP_011539387.1:p.Arg289Gln
XM_011541086.1:c.878G>A XP_011539388.1:p.Arg293Gln
XM_011541087.1:c.806G>A XP_011539389.1:p.Arg269Gln
XM_011541088.1:c.788G>A XP_011539390.1:p.Arg263Gln
XM_011541089.1:c.878G>A XP_011539391.1:p.Arg293Gln
XM_011541090.1:c.878G>A XP_011539392.1:p.Arg293Gln
XM_011541091.1:c.878G>A XP_011539393.1:p.Arg293Gln
XM_011541092.1:c.878G>A XP_011539394.1:p.Arg293Gln
NM_001349608.1:c.788G>A NP_001336537.1:p.Arg263Gln
NM_001349609.1:c.878G>A NP_001336538.1:p.Arg293Gln
NM_001349610.1:c.878G>A NP_001336539.1:p.Arg293Gln
NM_001349612.1:c.788G>A NP_001336541.1:p.Arg263Gln
XM_011541083.2:c.878G>A XP_011539385.1:p.Arg293Gln
XM_011541084.2:c.878G>A XP_011539386.1:p.Arg293Gln
XM_011541086.3:c.878G>A XP_011539388.1:p.Arg293Gln
XM_011541087.2:c.806G>A XP_011539389.1:p.Arg269Gln
XM_011541088.2:c.788G>A XP_011539390.1:p.Arg263Gln
XM_011541090.3:c.878G>A XP_011539392.1:p.Arg293Gln
XM_011541091.2:c.878G>A XP_011539393.1:p.Arg293Gln
XM_011541092.3:c.878G>A XP_011539394.1:p.Arg293Gln
XM_017000774.2:c.878G>A XP_016856263.1:p.Arg293Gln
XM_017000777.1:c.878G>A XP_016856266.1:p.Arg293Gln
XM_017000778.1:c.878G>A XP_016856267.1:p.Arg293Gln
NM_015215.4:c.878G>A MANE Select NP_056030.1:p.Arg293Gln
NM_001349608.2:c.788G>A NP_001336537.1:p.Arg263Gln
NM_001349609.2:c.878G>A NP_001336538.1:p.Arg293Gln
NM_001349610.2:c.878G>A NP_001336539.1:p.Arg293Gln
NM_001349612.2:c.788G>A NP_001336541.1:p.Arg263Gln