Canonical Allele Identifier: CA367288399

Gene: CDK13

Linked Data

• dbSNP Id: rs1342399394
• gnomAD v2: 7-40039069-C-G
• gnomAD v4: 7-39999470-C-G
• MyVariant Identifiers: chr7:g.40039069C>G (hg19) ; chr7:g.39999470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999470C>G , CM000669.2:g.39999470C>G	GRCh38
NC_000007.13:g.40039069C>G , CM000669.1:g.40039069C>G	GRCh37
NC_000007.12:g.40005594C>G	NCBI36
NG_052965.1:g.54111C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2152C>G MANE Select	ENSP00000181839.4:p.Gln718Glu
ENST00000340829.10:c.2152C>G	ENSP00000340557.5:p.Gln718Glu
ENST00000484589.2:c.704C>G
ENST00000642213.1:n.634C>G
ENST00000643859.1:c.1043C>G
ENST00000643915.1:c.466C>G	ENSP00000496187.1:p.Gln156Glu
ENST00000645470.1:c.82C>G	ENSP00000495036.1:p.Gln28Glu
ENST00000646039.1:c.1492C>G	ENSP00000494168.1:p.Gln498Glu
ENST00000647453.1:n.1221C>G
ENST00000647518.1:n.3989C>G
ENST00000181839.8:c.2152C>G	ENSP00000181839.4:p.Gln718Glu
ENST00000340829.9:c.2152C>G	ENSP00000340557.5:p.Gln718Glu
ENST00000484589.1:n.704C>G
ENST00000611390.1:c.310C>G	ENSP00000484610.1:p.Gln104Glu
ENST00000613626.4:c.310C>G	ENSP00000480835.1:p.Gln104Glu
NM_003718.4:c.2152C>G	NP_003709.3:p.Gln718Glu
NM_031267.3:c.2152C>G	NP_112557.2:p.Gln718Glu
XM_011515597.1:c.2152C>G	XP_011513899.1:p.Gln718Glu
XM_011515598.1:c.2152C>G	XP_011513900.1:p.Gln718Glu
XM_011515597.3:c.2152C>G	XP_011513899.1:p.Gln718Glu
XM_017012750.2:c.2152C>G	XP_016868239.1:p.Gln718Glu
XM_017012751.2:c.2152C>G	XP_016868240.1:p.Gln718Glu
NM_003718.5:c.2152C>G MANE Select	NP_003709.3:p.Gln718Glu