Canonical Allele Identifier: CA454724025

Gene: CDK13

Linked Data

• dbSNP Id: rs1409700733
• gnomAD v2: 7-40039071-A-G
• gnomAD v3: 7-39999472-A-G
• gnomAD v4: 7-39999472-A-G
• MyVariant Identifiers: chr7:g.40039071A>G (hg19) ; chr7:g.39999472A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999472A>G , CM000669.2:g.39999472A>G	GRCh38
NC_000007.13:g.40039071A>G , CM000669.1:g.40039071A>G	GRCh37
NC_000007.12:g.40005596A>G	NCBI36
NG_052965.1:g.54113A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2154A>G MANE Select	ENSP00000181839.4:p.Gln718=
ENST00000340829.10:c.2154A>G	ENSP00000340557.5:p.Gln718=
ENST00000484589.2:c.706A>G
ENST00000642213.1:n.636A>G
ENST00000643859.1:c.1045A>G
ENST00000643915.1:c.468A>G	ENSP00000496187.1:p.Gln156=
ENST00000645470.1:c.84A>G	ENSP00000495036.1:p.Gln28=
ENST00000646039.1:c.1494A>G	ENSP00000494168.1:p.Gln498=
ENST00000647453.1:n.1223A>G
ENST00000647518.1:n.3991A>G
ENST00000181839.8:c.2154A>G	ENSP00000181839.4:p.Gln718=
ENST00000340829.9:c.2154A>G	ENSP00000340557.5:p.Gln718=
ENST00000484589.1:n.706A>G
ENST00000611390.1:c.312A>G	ENSP00000484610.1:p.Gln104=
ENST00000613626.4:c.312A>G	ENSP00000480835.1:p.Gln104=
NM_003718.4:c.2154A>G	NP_003709.3:p.Gln718=
NM_031267.3:c.2154A>G	NP_112557.2:p.Gln718=
XM_011515597.1:c.2154A>G	XP_011513899.1:p.Gln718=
XM_011515598.1:c.2154A>G	XP_011513900.1:p.Gln718=
XM_011515597.3:c.2154A>G	XP_011513899.1:p.Gln718=
XM_017012750.2:c.2154A>G	XP_016868239.1:p.Gln718=
XM_017012751.2:c.2154A>G	XP_016868240.1:p.Gln718=
NM_003718.5:c.2154A>G MANE Select	NP_003709.3:p.Gln718=