Canonical Allele Identifier: CA367280397

Gene: CDK13

Linked Data

• gnomAD v4: 7-40046009-A-G
• MyVariant Identifiers: chr7:g.40085608A>G (hg19) ; chr7:g.40046009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40046009A>G , CM000669.2:g.40046009A>G	GRCh38
NC_000007.13:g.40085608A>G , CM000669.1:g.40085608A>G	GRCh37
NC_000007.12:g.40052133A>G	NCBI36
NG_052965.1:g.100650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700485.1:n.263A>G
ENST00000700486.1:n.301A>G
ENST00000700487.1:n.269A>G
ENST00000181839.10:c.2527A>G MANE Select	ENSP00000181839.4:p.Ile843Val
ENST00000340829.10:c.2527A>G	ENSP00000340557.5:p.Ile843Val
ENST00000484589.2:c.1079A>G
ENST00000642592.1:c.80A>G
ENST00000643859.1:c.1418A>G
ENST00000643915.1:c.841A>G	ENSP00000496187.1:p.Ile281Val
ENST00000645470.1:c.457A>G	ENSP00000495036.1:p.Ile153Val
ENST00000646039.1:c.1867A>G	ENSP00000494168.1:p.Ile623Val
ENST00000647453.1:n.1596A>G
ENST00000181839.8:c.2527A>G	ENSP00000181839.4:p.Ile843Val
ENST00000340829.9:c.2527A>G	ENSP00000340557.5:p.Ile843Val
ENST00000484589.1:n.1079A>G
ENST00000611390.1:c.685A>G	ENSP00000484610.1:p.Ile229Val
ENST00000613626.4:c.685A>G	ENSP00000480835.1:p.Ile229Val
NM_003718.4:c.2527A>G	NP_003709.3:p.Ile843Val
NM_031267.3:c.2527A>G	NP_112557.2:p.Ile843Val
XM_011515597.1:c.2527A>G	XP_011513899.1:p.Ile843Val
XM_011515598.1:c.2527A>G	XP_011513900.1:p.Ile843Val
XM_011515597.3:c.2527A>G	XP_011513899.1:p.Ile843Val
XM_017012750.2:c.2527A>G	XP_016868239.1:p.Ile843Val
XM_017012751.2:c.2527A>G	XP_016868240.1:p.Ile843Val
NM_003718.5:c.2527A>G MANE Select	NP_003709.3:p.Ile843Val