Canonical Allele Identifier: CA4228634

Gene: CDK13

Linked Data

• ClinVar Variation Id: 2054520
• ClinVar RCV Id: RCV002928057 ; RCV002928058
• dbSNP Id: rs145551468
• ExAC: 7:40039001 T / C
• gnomAD v2: 7-40039001-T-C
• gnomAD v3: 7-39999402-T-C
• gnomAD v4: 7-39999402-T-C
• MyVariant Identifiers: chr7:g.40039001T>C (hg19) ; chr7:g.39999402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999402T>C , CM000669.2:g.39999402T>C	GRCh38
NC_000007.13:g.40039001T>C , CM000669.1:g.40039001T>C	GRCh37
NC_000007.12:g.40005526T>C	NCBI36
NG_052965.1:g.54043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2084T>C MANE Select	ENSP00000181839.4:p.Ile695Thr
ENST00000340829.10:c.2084T>C	ENSP00000340557.5:p.Ile695Thr
ENST00000484589.2:c.636T>C
ENST00000642213.1:n.566T>C
ENST00000643859.1:c.975T>C
ENST00000643915.1:c.398T>C	ENSP00000496187.1:p.Ile133Thr
ENST00000645470.1:c.14T>C	ENSP00000495036.1:p.Ile5Thr
ENST00000646039.1:c.1424T>C	ENSP00000494168.1:p.Ile475Thr
ENST00000646437.1:c.718T>C
ENST00000647453.1:n.1153T>C
ENST00000647518.1:n.3921T>C
ENST00000181839.8:c.2084T>C	ENSP00000181839.4:p.Ile695Thr
ENST00000340829.9:c.2084T>C	ENSP00000340557.5:p.Ile695Thr
ENST00000484589.1:n.636T>C
ENST00000611390.1:c.242T>C	ENSP00000484610.1:p.Ile81Thr
ENST00000613626.4:c.242T>C	ENSP00000480835.1:p.Ile81Thr
NM_003718.4:c.2084T>C	NP_003709.3:p.Ile695Thr
NM_031267.3:c.2084T>C	NP_112557.2:p.Ile695Thr
XM_011515597.1:c.2084T>C	XP_011513899.1:p.Ile695Thr
XM_011515598.1:c.2084T>C	XP_011513900.1:p.Ile695Thr
XM_011515597.3:c.2084T>C	XP_011513899.1:p.Ile695Thr
XM_017012750.2:c.2084T>C	XP_016868239.1:p.Ile695Thr
XM_017012751.2:c.2084T>C	XP_016868240.1:p.Ile695Thr
NM_003718.5:c.2084T>C MANE Select	NP_003709.3:p.Ile695Thr