Canonical Allele Identifier: CA16043270
Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 373139
ClinVar RCV Id: RCV000412809
dbSNP Id: rs1057518245

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41531144G>A , CM000685.2:g.41531144G>A GRCh38
NC_000023.10:g.41390397G>A , CM000685.1:g.41390397G>A GRCh37
NC_000023.9:g.41275341G>A NCBI36
NG_016754.1:g.396891C>T
NG_016754.2:g.396891C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378154.3:c.2332C>T ENSP00000367396.2:p.Gln778Ter
ENST00000378158.6:c.2329C>T ENSP00000367400.2:p.Gln777Ter
ENST00000378163.7:c.2383C>T MANE Select ENSP00000367405.1:p.Gln795Ter
ENST00000378166.9:c.2281C>T ENSP00000367408.5:p.Gln761Ter
ENST00000378168.8:c.2386C>T ENSP00000367410.4:p.Gln796Ter
ENST00000378179.9:c.1003C>T ENSP00000367421.4:p.Gln335Ter
ENST00000421587.8:c.2314C>T ENSP00000400526.4:p.Gln772Ter
ENST00000442742.7:c.2245C>T ENSP00000398007.3:p.Gln749Ter
ENST00000642499.1:n.1162C>T
ENST00000643733.1:c.155C>T
ENST00000644219.1:c.2365C>T ENSP00000495357.1:p.Gln789Ter
ENST00000644347.1:c.2296C>T ENSP00000494183.1:p.Gln766Ter
ENST00000645566.1:c.2368C>T ENSP00000494788.1:p.Gln790Ter
ENST00000645937.2:n.2614C>T
ENST00000645986.2:c.2350C>T ENSP00000494409.2:p.Gln784Ter
ENST00000646087.2:c.1705C>T ENSP00000495510.2:p.Gln569Ter
ENST00000646120.2:c.2299C>T ENSP00000495291.2:p.Gln767Ter
ENST00000675354.1:c.2317C>T ENSP00000502315.1:p.Gln773Ter
ENST00000378158.5:c.2332C>T ENSP00000367400.1:p.Gln778Ter
ENST00000378163.5:c.2383C>T ENSP00000367405.1:p.Gln795Ter
ENST00000378166.8:c.2368C>T ENSP00000367408.4:p.Gln790Ter
ENST00000378168.6:c.748C>T ENSP00000367410.2:p.Gln250Ter
ENST00000378179.7:c.1159C>T ENSP00000367421.3:p.Gln387Ter
ENST00000421587.6:c.2296C>T ENSP00000400526.2:p.Gln766Ter
ENST00000442742.6:c.2299C>T ENSP00000398007.2:p.Gln767Ter
NM_001126054.2:c.2299C>T NP_001119526.1:p.Gln767Ter
NM_001126055.2:c.2296C>T NP_001119527.1:p.Gln766Ter
NM_003688.3:c.2368C>T NP_003679.2:p.Gln790Ter
XM_005272686.3:c.2365C>T XP_005272743.1:p.Gln789Ter
XM_006724566.2:c.2260C>T XP_006724629.1:p.Gln754Ter
XM_011543993.1:c.2383C>T XP_011542295.1:p.Gln795Ter
XM_011543994.1:c.2347C>T XP_011542296.1:p.Gln783Ter
XM_011543995.1:c.2314C>T XP_011542297.1:p.Gln772Ter
XM_011543996.1:c.2278C>T XP_011542298.1:p.Gln760Ter
XM_011543997.1:c.1810C>T XP_011542299.1:p.Gln604Ter
XM_005272686.4:c.2365C>T XP_005272743.1:p.Gln789Ter
XM_006724566.3:c.2260C>T XP_006724629.1:p.Gln754Ter
XM_011543993.2:c.2383C>T XP_011542295.1:p.Gln795Ter
XM_011543994.2:c.2347C>T XP_011542296.1:p.Gln783Ter
XM_011543995.2:c.2314C>T XP_011542297.1:p.Gln772Ter
XM_011543996.2:c.2278C>T XP_011542298.1:p.Gln760Ter
XM_011543997.3:c.1810C>T XP_011542299.1:p.Gln604Ter
XM_024452473.1:c.1705C>T XP_024308241.1:p.Gln569Ter
NM_001367721.1:c.2383C>T MANE Select NP_001354650.1:p.Gln795Ter