Canonical Allele Identifier: CA287157

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 127521
• ClinVar RCV Id: RCV000115329 ; RCV001854548
• dbSNP Id: rs587779897
• gnomAD v4: 12-57748575-G-C
• MyVariant Identifiers: chr12:g.58142358G>C (hg19) ; chr12:g.57748575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57748575G>C , CM000674.2:g.57748575G>C	GRCh38
NC_000012.11:g.58142358G>C , CM000674.1:g.58142358G>C	GRCh37
NC_000012.10:g.56428625G>C	NCBI36
NG_007484.2:g.8807C>G , LRG_490:g.8807C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.862C>G (CDK4) MANE Select	ENSP00000257904.5:p.Arg288Gly
ENST00000257910.8:c.*1285G>C (TSPAN31) MANE Select	ENSP00000257910.3:n.*1285G>C
ENST00000257904.10:c.862C>G (CDK4)	ENSP00000257904.5:p.Arg288Gly
ENST00000312990.10:c.*174C>G (CDK4)	ENSP00000316889.6:n.*174C>G
ENST00000547992.5:c.*1285G>C (TSPAN31)	ENSP00000448209.1:n.*1285G>C
ENST00000549606.5:c.73C>G (CDK4)	ENSP00000447005.1:p.Arg25Gly
ENST00000552713.5:n.521C>G (CDK4)
ENST00000553237.5:c.*501C>G (CDK4)	ENSP00000448885.1:n.*501C>G
NM_000075.3:c.862C>G (CDK4)	NP_000066.1:p.Arg288Gly
NM_000075.4:c.862C>G (CDK4) MANE Select	NP_000066.1:p.Arg288Gly
NM_005981.5:c.*1285G>C (TSPAN31) MANE Select	NP_005972.1:n.*1285G>C
NM_001330168.2:c.*1285G>C (TSPAN31)	NP_001317097.1:n.*1285G>C
NM_001330169.2:c.*1285G>C (TSPAN31)	NP_001317098.1:n.*1285G>C