Canonical Allele Identifier: CA204679

Gene: CASK

Linked Data

• ClinVar Variation Id: 208685
• ClinVar RCV Id: RCV000190700
• dbSNP Id: rs759736132
• ExAC: X:41390294 T / C
• gnomAD v2: X-41390294-T-C
• gnomAD v3: X-41531041-T-C
• gnomAD v4: X-41531041-T-C
• MyVariant Identifiers: chrX:g.41390294T>C (hg19) ; chrX:g.41531041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531041T>C , CM000685.2:g.41531041T>C	GRCh38
NC_000023.10:g.41390294T>C , CM000685.1:g.41390294T>C	GRCh37
NC_000023.9:g.41275238T>C	NCBI36
NG_016754.1:g.396994A>G
NG_016754.2:g.396994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2435A>G	ENSP00000367396.2:p.Gln812Arg
ENST00000378158.6:c.2432A>G	ENSP00000367400.2:p.Gln811Arg
ENST00000378163.7:c.2486A>G MANE Select	ENSP00000367405.1:p.Gln829Arg
ENST00000378166.9:c.2384A>G	ENSP00000367408.5:p.Gln795Arg
ENST00000378168.8:c.2489A>G	ENSP00000367410.4:p.Gln830Arg
ENST00000378179.9:c.1106A>G	ENSP00000367421.4:p.Gln369Arg
ENST00000421587.8:c.2417A>G	ENSP00000400526.4:p.Gln806Arg
ENST00000442742.7:c.2348A>G	ENSP00000398007.3:p.Gln783Arg
ENST00000642499.1:n.1265A>G
ENST00000643733.1:c.258A>G
ENST00000644219.1:c.2468A>G	ENSP00000495357.1:p.Gln823Arg
ENST00000644347.1:c.2399A>G	ENSP00000494183.1:p.Gln800Arg
ENST00000645566.1:c.2471A>G	ENSP00000494788.1:p.Gln824Arg
ENST00000645937.2:n.2717A>G
ENST00000645986.2:c.2453A>G	ENSP00000494409.2:p.Gln818Arg
ENST00000646087.2:c.1808A>G	ENSP00000495510.2:p.Gln603Arg
ENST00000646120.2:c.2402A>G	ENSP00000495291.2:p.Gln801Arg
ENST00000675354.1:c.2420A>G	ENSP00000502315.1:p.Gln807Arg
ENST00000378158.5:c.2435A>G	ENSP00000367400.1:p.Gln812Arg
ENST00000378163.5:c.2486A>G	ENSP00000367405.1:p.Gln829Arg
ENST00000378166.8:c.2471A>G	ENSP00000367408.4:p.Gln824Arg
ENST00000378168.6:c.851A>G	ENSP00000367410.2:p.Gln284Arg
ENST00000378179.7:c.1262A>G	ENSP00000367421.3:p.Gln421Arg
ENST00000421587.6:c.2399A>G	ENSP00000400526.2:p.Gln800Arg
ENST00000442742.6:c.2402A>G	ENSP00000398007.2:p.Gln801Arg
NM_001126054.2:c.2402A>G	NP_001119526.1:p.Gln801Arg
NM_001126055.2:c.2399A>G	NP_001119527.1:p.Gln800Arg
NM_003688.3:c.2471A>G	NP_003679.2:p.Gln824Arg
XM_005272686.3:c.2468A>G	XP_005272743.1:p.Gln823Arg
XM_006724566.2:c.2363A>G	XP_006724629.1:p.Gln788Arg
XM_011543993.1:c.2486A>G	XP_011542295.1:p.Gln829Arg
XM_011543994.1:c.2450A>G	XP_011542296.1:p.Gln817Arg
XM_011543995.1:c.2417A>G	XP_011542297.1:p.Gln806Arg
XM_011543996.1:c.2381A>G	XP_011542298.1:p.Gln794Arg
XM_011543997.1:c.1913A>G	XP_011542299.1:p.Gln638Arg
XM_005272686.4:c.2468A>G	XP_005272743.1:p.Gln823Arg
XM_006724566.3:c.2363A>G	XP_006724629.1:p.Gln788Arg
XM_011543993.2:c.2486A>G	XP_011542295.1:p.Gln829Arg
XM_011543994.2:c.2450A>G	XP_011542296.1:p.Gln817Arg
XM_011543995.2:c.2417A>G	XP_011542297.1:p.Gln806Arg
XM_011543996.2:c.2381A>G	XP_011542298.1:p.Gln794Arg
XM_011543997.3:c.1913A>G	XP_011542299.1:p.Gln638Arg
XM_024452473.1:c.1808A>G	XP_024308241.1:p.Gln603Arg
NM_001367721.1:c.2486A>G MANE Select	NP_001354650.1:p.Gln829Arg