Canonical Allele Identifier: CA157254258

Gene: CDK13

Linked Data

• dbSNP Id: rs934764468
• gnomAD v3: 7-39999375-G-A
• gnomAD v4: 7-39999375-G-A
• MyVariant Identifiers: chr7:g.40038974G>A (hg19) ; chr7:g.39999375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999375G>A , CM000669.2:g.39999375G>A	GRCh38
NC_000007.13:g.40038974G>A , CM000669.1:g.40038974G>A	GRCh37
NC_000007.12:g.40005499G>A	NCBI36
NG_052965.1:g.54016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2057G>A MANE Select	ENSP00000181839.4:p.Arg686His
ENST00000340829.10:c.2057G>A	ENSP00000340557.5:p.Arg686His
ENST00000484589.2:c.609G>A
ENST00000642213.1:n.539G>A
ENST00000642660.1:n.937G>A
ENST00000643859.1:c.948G>A
ENST00000643915.1:c.371G>A	ENSP00000496187.1:p.Arg124His
ENST00000646039.1:c.1397G>A	ENSP00000494168.1:p.Arg466His
ENST00000646437.1:c.691G>A
ENST00000647453.1:n.1126G>A
ENST00000647518.1:n.3894G>A
ENST00000181839.8:c.2057G>A	ENSP00000181839.4:p.Arg686His
ENST00000340829.9:c.2057G>A	ENSP00000340557.5:p.Arg686His
ENST00000484589.1:n.609G>A
ENST00000611390.1:c.215G>A	ENSP00000484610.1:p.Arg72His
ENST00000613626.4:c.215G>A	ENSP00000480835.1:p.Arg72His
NM_003718.4:c.2057G>A	NP_003709.3:p.Arg686His
NM_031267.3:c.2057G>A	NP_112557.2:p.Arg686His
XM_011515597.1:c.2057G>A	XP_011513899.1:p.Arg686His
XM_011515598.1:c.2057G>A	XP_011513900.1:p.Arg686His
XM_011515597.3:c.2057G>A	XP_011513899.1:p.Arg686His
XM_017012750.2:c.2057G>A	XP_016868239.1:p.Arg686His
XM_017012751.2:c.2057G>A	XP_016868240.1:p.Arg686His
NM_003718.5:c.2057G>A MANE Select	NP_003709.3:p.Arg686His