Canonical Allele Identifier: CA299013

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 182405
• ClinVar RCV Id: RCV000160399 ; RCV000458248 ; RCV000565351 ; RCV000656827 ; RCV000765100
• dbSNP Id: rs200215596
• ExAC: 12:58143005 A / T
• gnomAD v2: 12-58143005-A-T
• gnomAD v3: 12-57749222-A-T
• gnomAD v4: 12-57749222-A-T
• MyVariant Identifiers: chr12:g.58143005A>T (hg19) ; chr12:g.57749222A>T (hg38)
• PubMed: PMID:23718828 ; PMID:25980754 ; PMID:26252490

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57749222A>T , CM000674.2:g.57749222A>T	GRCh38
NC_000012.11:g.58143005A>T , CM000674.1:g.58143005A>T	GRCh37
NC_000012.10:g.56429272A>T	NCBI36
NG_007484.2:g.8160T>A , LRG_490:g.8160T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.779T>A (CDK4) MANE Select	ENSP00000257904.5:p.Val260Glu
ENST00000257910.8:c.*1932A>T (TSPAN31) MANE Select	ENSP00000257910.3:n.*1932A>T
ENST00000257904.10:c.779T>A (CDK4)	ENSP00000257904.5:p.Val260Glu
ENST00000312990.10:c.*91T>A (CDK4)	ENSP00000316889.6:n.*91T>A
ENST00000546489.5:c.557T>A (CDK4)	ENSP00000447779.1:p.Val186Glu
ENST00000547281.5:c.557T>A (CDK4)	ENSP00000447274.1:p.Val186Glu
ENST00000547992.5:c.*1932A>T (TSPAN31)	ENSP00000448209.1:n.*1932A>T
ENST00000549606.5:c.-11T>A (CDK4)	ENSP00000447005.1:n.-11T>A
ENST00000551888.5:n.605T>A (CDK4)
ENST00000552713.5:n.438T>A (CDK4)
ENST00000553237.5:c.*418T>A (CDK4)	ENSP00000448885.1:n.*418T>A
NM_000075.3:c.779T>A (CDK4)	NP_000066.1:p.Val260Glu
NM_000075.4:c.779T>A (CDK4) MANE Select	NP_000066.1:p.Val260Glu
NM_005981.5:c.*1932A>T (TSPAN31) MANE Select	NP_005972.1:n.*1932A>T
NM_001330168.2:c.*1932A>T (TSPAN31)	NP_001317097.1:n.*1932A>T
NM_001330169.2:c.*1932A>T (TSPAN31)	NP_001317098.1:n.*1932A>T