Canonical Allele Identifier: CA6657621

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 485491
• ClinVar RCV Id: RCV000561965
• dbSNP Id: rs771234928
• ExAC: 12:58142324 T / C
• gnomAD v2: 12-58142324-T-C
• gnomAD v3: 12-57748541-T-C
• gnomAD v4: 12-57748541-T-C
• MyVariant Identifiers: chr12:g.58142324T>C (hg19) ; chr12:g.57748541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57748541T>C , CM000674.2:g.57748541T>C	GRCh38
NC_000012.11:g.58142324T>C , CM000674.1:g.58142324T>C	GRCh37
NC_000012.10:g.56428591T>C	NCBI36
NG_007484.2:g.8841A>G , LRG_490:g.8841A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.896A>G (CDK4) MANE Select	ENSP00000257904.5:p.Glu299Gly
ENST00000257910.8:c.*1251T>C (TSPAN31) MANE Select	ENSP00000257910.3:n.*1251T>C
ENST00000257904.10:c.896A>G (CDK4)	ENSP00000257904.5:p.Glu299Gly
ENST00000312990.10:c.*208A>G (CDK4)	ENSP00000316889.6:n.*208A>G
ENST00000547992.5:c.*1251T>C (TSPAN31)	ENSP00000448209.1:n.*1251T>C
ENST00000549606.5:c.107A>G (CDK4)	ENSP00000447005.1:p.Glu36Gly
ENST00000552713.5:n.555A>G (CDK4)
ENST00000553237.5:c.*535A>G (CDK4)	ENSP00000448885.1:n.*535A>G
NM_000075.3:c.896A>G (CDK4)	NP_000066.1:p.Glu299Gly
NM_000075.4:c.896A>G (CDK4) MANE Select	NP_000066.1:p.Glu299Gly
NM_005981.5:c.*1251T>C (TSPAN31) MANE Select	NP_005972.1:n.*1251T>C
NM_001330168.2:c.*1251T>C (TSPAN31)	NP_001317097.1:n.*1251T>C
NM_001330169.2:c.*1251T>C (TSPAN31)	NP_001317098.1:n.*1251T>C