Canonical Allele Identifier: CA4228630

Gene: CDK13

Linked Data

• dbSNP Id: rs775637579
• ExAC: 7:40038991 G / T
• gnomAD v2: 7-40038991-G-T
• gnomAD v4: 7-39999392-G-T
• MyVariant Identifiers: chr7:g.40038991G>T (hg19) ; chr7:g.39999392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999392G>T , CM000669.2:g.39999392G>T	GRCh38
NC_000007.13:g.40038991G>T , CM000669.1:g.40038991G>T	GRCh37
NC_000007.12:g.40005516G>T	NCBI36
NG_052965.1:g.54033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2074G>T MANE Select	ENSP00000181839.4:p.Glu692Ter
ENST00000340829.10:c.2074G>T	ENSP00000340557.5:p.Glu692Ter
ENST00000484589.2:c.626G>T
ENST00000642213.1:n.556G>T
ENST00000643859.1:c.965G>T
ENST00000643915.1:c.388G>T	ENSP00000496187.1:p.Glu130Ter
ENST00000645470.1:c.4G>T	ENSP00000495036.1:p.Glu2Ter
ENST00000646039.1:c.1414G>T	ENSP00000494168.1:p.Glu472Ter
ENST00000646437.1:c.708G>T
ENST00000647453.1:n.1143G>T
ENST00000647518.1:n.3911G>T
ENST00000181839.8:c.2074G>T	ENSP00000181839.4:p.Glu692Ter
ENST00000340829.9:c.2074G>T	ENSP00000340557.5:p.Glu692Ter
ENST00000484589.1:n.626G>T
ENST00000611390.1:c.232G>T	ENSP00000484610.1:p.Glu78Ter
ENST00000613626.4:c.232G>T	ENSP00000480835.1:p.Glu78Ter
NM_003718.4:c.2074G>T	NP_003709.3:p.Glu692Ter
NM_031267.3:c.2074G>T	NP_112557.2:p.Glu692Ter
XM_011515597.1:c.2074G>T	XP_011513899.1:p.Glu692Ter
XM_011515598.1:c.2074G>T	XP_011513900.1:p.Glu692Ter
XM_011515597.3:c.2074G>T	XP_011513899.1:p.Glu692Ter
XM_017012750.2:c.2074G>T	XP_016868239.1:p.Glu692Ter
XM_017012751.2:c.2074G>T	XP_016868240.1:p.Glu692Ter
NM_003718.5:c.2074G>T MANE Select	NP_003709.3:p.Glu692Ter