Canonical Allele Identifier: CA367289707

Gene: CDK13

Linked Data

• gnomAD v4: 7-40001944-C-A
• MyVariant Identifiers: chr7:g.40041543C>A (hg19) ; chr7:g.40001944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40001944C>A , CM000669.2:g.40001944C>A	GRCh38
NC_000007.13:g.40041543C>A , CM000669.1:g.40041543C>A	GRCh37
NC_000007.12:g.40008068C>A	NCBI36
NG_052965.1:g.56585C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2266C>A MANE Select	ENSP00000181839.4:p.Leu756Ile
ENST00000340829.10:c.2266C>A	ENSP00000340557.5:p.Leu756Ile
ENST00000484589.2:c.818C>A
ENST00000642213.1:n.748C>A
ENST00000643859.1:c.1157C>A
ENST00000643915.1:c.580C>A	ENSP00000496187.1:p.Leu194Ile
ENST00000645470.1:c.196C>A	ENSP00000495036.1:p.Leu66Ile
ENST00000646039.1:c.1606C>A	ENSP00000494168.1:p.Leu536Ile
ENST00000647453.1:n.1335C>A
ENST00000647518.1:n.4103C>A
ENST00000181839.8:c.2266C>A	ENSP00000181839.4:p.Leu756Ile
ENST00000340829.9:c.2266C>A	ENSP00000340557.5:p.Leu756Ile
ENST00000484589.1:n.818C>A
ENST00000611390.1:c.424C>A	ENSP00000484610.1:p.Leu142Ile
ENST00000613626.4:c.424C>A	ENSP00000480835.1:p.Leu142Ile
NM_003718.4:c.2266C>A	NP_003709.3:p.Leu756Ile
NM_031267.3:c.2266C>A	NP_112557.2:p.Leu756Ile
XM_011515597.1:c.2266C>A	XP_011513899.1:p.Leu756Ile
XM_011515598.1:c.2266C>A	XP_011513900.1:p.Leu756Ile
XM_011515597.3:c.2266C>A	XP_011513899.1:p.Leu756Ile
XM_017012750.2:c.2266C>A	XP_016868239.1:p.Leu756Ile
XM_017012751.2:c.2266C>A	XP_016868240.1:p.Leu756Ile
NM_003718.5:c.2266C>A MANE Select	NP_003709.3:p.Leu756Ile