Canonical Allele Identifier: CA367280422

Gene: CDK13

Linked Data

• dbSNP Id: rs1785730279
• gnomAD v4: 7-40046012-C-A
• MyVariant Identifiers: chr7:g.40085611C>A (hg19) ; chr7:g.40046012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40046012C>A , CM000669.2:g.40046012C>A	GRCh38
NC_000007.13:g.40085611C>A , CM000669.1:g.40085611C>A	GRCh37
NC_000007.12:g.40052136C>A	NCBI36
NG_052965.1:g.100653C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700485.1:n.266C>A
ENST00000700486.1:n.304C>A
ENST00000700487.1:n.272C>A
ENST00000181839.10:c.2530C>A MANE Select	ENSP00000181839.4:p.Leu844Ile
ENST00000340829.10:c.2530C>A	ENSP00000340557.5:p.Leu844Ile
ENST00000484589.2:c.1082C>A
ENST00000642592.1:c.83C>A
ENST00000643859.1:c.1421C>A
ENST00000643915.1:c.844C>A	ENSP00000496187.1:p.Leu282Ile
ENST00000645470.1:c.460C>A	ENSP00000495036.1:p.Leu154Ile
ENST00000646039.1:c.1870C>A	ENSP00000494168.1:p.Leu624Ile
ENST00000647453.1:n.1599C>A
ENST00000181839.8:c.2530C>A	ENSP00000181839.4:p.Leu844Ile
ENST00000340829.9:c.2530C>A	ENSP00000340557.5:p.Leu844Ile
ENST00000484589.1:n.1082C>A
ENST00000611390.1:c.688C>A	ENSP00000484610.1:p.Leu230Ile
ENST00000613626.4:c.688C>A	ENSP00000480835.1:p.Leu230Ile
NM_003718.4:c.2530C>A	NP_003709.3:p.Leu844Ile
NM_031267.3:c.2530C>A	NP_112557.2:p.Leu844Ile
XM_011515597.1:c.2530C>A	XP_011513899.1:p.Leu844Ile
XM_011515598.1:c.2530C>A	XP_011513900.1:p.Leu844Ile
XM_011515597.3:c.2530C>A	XP_011513899.1:p.Leu844Ile
XM_017012750.2:c.2530C>A	XP_016868239.1:p.Leu844Ile
XM_017012751.2:c.2530C>A	XP_016868240.1:p.Leu844Ile
NM_003718.5:c.2530C>A MANE Select	NP_003709.3:p.Leu844Ile