Canonical Allele Identifier: CA4228629

Gene: CDK13

Linked Data

• ClinVar Variation Id: 2323240
• ClinVar RCV Id: RCV003434627 ; RCV002898361
• dbSNP Id: rs144427590
• ExAC: 7:40038985 A / G
• gnomAD v2: 7-40038985-A-G
• gnomAD v3: 7-39999386-A-G
• gnomAD v4: 7-39999386-A-G
• MyVariant Identifiers: chr7:g.40038985A>G (hg19) ; chr7:g.39999386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999386A>G , CM000669.2:g.39999386A>G	GRCh38
NC_000007.13:g.40038985A>G , CM000669.1:g.40038985A>G	GRCh37
NC_000007.12:g.40005510A>G	NCBI36
NG_052965.1:g.54027A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2068A>G MANE Select	ENSP00000181839.4:p.Thr690Ala
ENST00000340829.10:c.2068A>G	ENSP00000340557.5:p.Thr690Ala
ENST00000484589.2:c.620A>G
ENST00000642213.1:n.550A>G
ENST00000642660.1:n.948A>G
ENST00000643859.1:c.959A>G
ENST00000643915.1:c.382A>G	ENSP00000496187.1:p.Thr128Ala
ENST00000646039.1:c.1408A>G	ENSP00000494168.1:p.Thr470Ala
ENST00000646437.1:c.702A>G
ENST00000647453.1:n.1137A>G
ENST00000647518.1:n.3905A>G
ENST00000181839.8:c.2068A>G	ENSP00000181839.4:p.Thr690Ala
ENST00000340829.9:c.2068A>G	ENSP00000340557.5:p.Thr690Ala
ENST00000484589.1:n.620A>G
ENST00000611390.1:c.226A>G	ENSP00000484610.1:p.Thr76Ala
ENST00000613626.4:c.226A>G	ENSP00000480835.1:p.Thr76Ala
NM_003718.4:c.2068A>G	NP_003709.3:p.Thr690Ala
NM_031267.3:c.2068A>G	NP_112557.2:p.Thr690Ala
XM_011515597.1:c.2068A>G	XP_011513899.1:p.Thr690Ala
XM_011515598.1:c.2068A>G	XP_011513900.1:p.Thr690Ala
XM_011515597.3:c.2068A>G	XP_011513899.1:p.Thr690Ala
XM_017012750.2:c.2068A>G	XP_016868239.1:p.Thr690Ala
XM_017012751.2:c.2068A>G	XP_016868240.1:p.Thr690Ala
NM_003718.5:c.2068A>G MANE Select	NP_003709.3:p.Thr690Ala