Canonical Allele Identifier: CA16618458
Gene: CDK13 HGNC NCBI

Linked Data

ClinVar Variation Id: 423480
ClinVar RCV Id: RCV000478032 RCV001174959
dbSNP Id: rs1064796451
gnomAD v4: 7-40001887-C-T
MyVariant Identifiers: chr7:g.40041486C>T (hg19) chr7:g.40001887C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40001887C>T , CM000669.2:g.40001887C>T GRCh38
NC_000007.13:g.40041486C>T , CM000669.1:g.40041486C>T GRCh37
NC_000007.12:g.40008011C>T NCBI36
NG_052965.1:g.56528C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000181839.10:c.2209C>T MANE Select ENSP00000181839.4:p.Arg737Cys
ENST00000340829.10:c.2209C>T ENSP00000340557.5:p.Arg737Cys
ENST00000484589.2:c.761C>T
ENST00000642213.1:n.691C>T
ENST00000643859.1:c.1100C>T
ENST00000643915.1:c.523C>T ENSP00000496187.1:p.Arg175Cys
ENST00000645470.1:c.139C>T ENSP00000495036.1:p.Arg47Cys
ENST00000646039.1:c.1549C>T ENSP00000494168.1:p.Arg517Cys
ENST00000647453.1:n.1278C>T
ENST00000647518.1:n.4046C>T
ENST00000181839.8:c.2209C>T ENSP00000181839.4:p.Arg737Cys
ENST00000340829.9:c.2209C>T ENSP00000340557.5:p.Arg737Cys
ENST00000484589.1:n.761C>T
ENST00000611390.1:c.367C>T ENSP00000484610.1:p.Arg123Cys
ENST00000613626.4:c.367C>T ENSP00000480835.1:p.Arg123Cys
NM_003718.4:c.2209C>T NP_003709.3:p.Arg737Cys
NM_031267.3:c.2209C>T NP_112557.2:p.Arg737Cys
XM_011515597.1:c.2209C>T XP_011513899.1:p.Arg737Cys
XM_011515598.1:c.2209C>T XP_011513900.1:p.Arg737Cys
XM_011515597.3:c.2209C>T XP_011513899.1:p.Arg737Cys
XM_017012750.2:c.2209C>T XP_016868239.1:p.Arg737Cys
XM_017012751.2:c.2209C>T XP_016868240.1:p.Arg737Cys
NM_003718.5:c.2209C>T MANE Select NP_003709.3:p.Arg737Cys
Search 100 bp 5'
Search 100 bp 3'