Canonical Allele Identifier: CA188640

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 184333
• ClinVar RCV Id: RCV000163565 ; RCV000410012 ; RCV000478517 ; RCV001082172 ; RCV002509263 ; RCV003945271
• dbSNP Id: rs144657355
• ExAC: 12:58143020 C / T
• gnomAD v2: 12-58143020-C-T
• gnomAD v3: 12-57749237-C-T
• gnomAD v4: 12-57749237-C-T
• MyVariant Identifiers: chr12:g.58143020C>T (hg19) ; chr12:g.57749237C>T (hg38)
• PubMed: PMID:26252490

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57749237C>T , CM000674.2:g.57749237C>T	GRCh38
NC_000012.11:g.58143020C>T , CM000674.1:g.58143020C>T	GRCh37
NC_000012.10:g.56429287C>T	NCBI36
NG_007484.2:g.8145G>A , LRG_490:g.8145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.764G>A (CDK4) MANE Select	ENSP00000257904.5:p.Arg255His
ENST00000257910.8:c.*1947C>T (TSPAN31) MANE Select	ENSP00000257910.3:n.*1947C>T
ENST00000257904.10:c.764G>A (CDK4)	ENSP00000257904.5:p.Arg255His
ENST00000312990.10:c.*76G>A (CDK4)	ENSP00000316889.6:n.*76G>A
ENST00000546489.5:c.542G>A (CDK4)	ENSP00000447779.1:p.Arg181His
ENST00000547281.5:c.542G>A (CDK4)	ENSP00000447274.1:p.Arg181His
ENST00000547992.5:c.*1947C>T (TSPAN31)	ENSP00000448209.1:n.*1947C>T
ENST00000549606.5:c.-26G>A (CDK4)	ENSP00000447005.1:n.-26G>A
ENST00000550419.5:c.*170G>A (CDK4)	ENSP00000448098.1:n.*170G>A
ENST00000551888.5:n.590G>A (CDK4)
ENST00000552713.5:n.423G>A (CDK4)
ENST00000553237.5:c.*403G>A (CDK4)	ENSP00000448885.1:n.*403G>A
NM_000075.3:c.764G>A (CDK4)	NP_000066.1:p.Arg255His
NM_000075.4:c.764G>A (CDK4) MANE Select	NP_000066.1:p.Arg255His
NM_005981.5:c.*1947C>T (TSPAN31) MANE Select	NP_005972.1:n.*1947C>T
NM_001330168.2:c.*1947C>T (TSPAN31)	NP_001317097.1:n.*1947C>T
NM_001330169.2:c.*1947C>T (TSPAN31)	NP_001317098.1:n.*1947C>T