Canonical Allele Identifier: CA640510274

Gene: CDKL5

Linked Data

• dbSNP Id: rs1158608301
• gnomAD v2: X-18606040-A-G
• gnomAD v3: X-18587920-A-G
• gnomAD v4: X-18587920-A-G
• MyVariant Identifiers: chrX:g.18606040A>G (hg19) ; chrX:g.18587920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18587920A>G , CM000685.2:g.18587920A>G	GRCh38
NC_000023.10:g.18606040A>G , CM000685.1:g.18606040A>G	GRCh37
NC_000023.9:g.18515961A>G	NCBI36
NG_008475.1:g.167316A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.555-34A>G MANE Select	ENSP00000485244.1:n.555-34A>G
ENST00000635828.1:c.555-34A>G	ENSP00000490170.1:n.555-34A>G
ENST00000637881.1:c.555-34A>G	ENSP00000489879.1:n.555-34A>G
ENST00000674046.1:c.555-34A>G	ENSP00000501174.1:n.555-34A>G
ENST00000379989.6:c.555-34A>G	ENSP00000369325.3:n.555-34A>G
ENST00000379996.7:c.555-34A>G	ENSP00000369332.3:n.555-34A>G
ENST00000463994.4:c.555-34A>G	ENSP00000485184.1:n.555-34A>G
ENST00000623535.1:c.555-34A>G	ENSP00000485244.1:n.555-34A>G
ENST00000623610.1:n.235A>G
NM_001037343.1:c.555-34A>G	NP_001032420.1:n.555-34A>G
NM_003159.2:c.555-34A>G	NP_003150.1:n.555-34A>G
XM_011545569.1:c.555-34A>G	XP_011543871.1:n.555-34A>G
XM_011545570.1:c.423-34A>G	XP_011543872.1:n.423-34A>G
XR_950484.1:n.807-34A>G
NM_001323289.1:c.555-34A>G	NP_001310218.1:n.555-34A>G
NM_001323289.2:c.555-34A>G MANE Select	NP_001310218.1:n.555-34A>G
NM_001037343.2:c.555-34A>G	NP_001032420.1:n.555-34A>G
NM_003159.3:c.555-34A>G	NP_003150.1:n.555-34A>G