Canonical Allele Identifier: CA158055
Gene: CDK4 HGNC NCBI
TSPAN31 HGNC NCBI

Linked Data

ClinVar Variation Id: 133877
ClinVar RCV Id: RCV000120537 RCV000536177 RCV000573723 RCV000988867
dbSNP Id: rs587778188
ExAC: 12:58143021 G / A
gnomAD v2: 12-58143021-G-A
gnomAD v3: 12-57749238-G-A
gnomAD v4: 12-57749238-G-A
MyVariant Identifiers: chr12:g.58143021G>A (hg19) chr12:g.57749238G>A (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57749238G>A , CM000674.2:g.57749238G>A GRCh38
NC_000012.11:g.58143021G>A , CM000674.1:g.58143021G>A GRCh37
NC_000012.10:g.56429288G>A NCBI36
NG_007484.2:g.8144C>T , LRG_490:g.8144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257904.11:c.763C>T (CDK4) MANE Select ENSP00000257904.5:p.Arg255Cys
ENST00000257910.8:c.*1948G>A (TSPAN31) MANE Select ENSP00000257910.3:n.*1948G>A
ENST00000257904.10:c.763C>T (CDK4) ENSP00000257904.5:p.Arg255Cys
ENST00000312990.10:c.*75C>T (CDK4) ENSP00000316889.6:n.*75C>T
ENST00000546489.5:c.541C>T (CDK4) ENSP00000447779.1:p.Arg181Cys
ENST00000547281.5:c.541C>T (CDK4) ENSP00000447274.1:p.Arg181Cys
ENST00000547992.5:c.*1948G>A (TSPAN31) ENSP00000448209.1:n.*1948G>A
ENST00000549606.5:c.-27C>T (CDK4) ENSP00000447005.1:n.-27C>T
ENST00000550419.5:c.*169C>T (CDK4) ENSP00000448098.1:n.*169C>T
ENST00000551888.5:n.589C>T (CDK4)
ENST00000552713.5:n.422C>T (CDK4)
ENST00000553237.5:c.*402C>T (CDK4) ENSP00000448885.1:n.*402C>T
NM_000075.3:c.763C>T (CDK4) NP_000066.1:p.Arg255Cys
NM_000075.4:c.763C>T (CDK4) MANE Select NP_000066.1:p.Arg255Cys
NM_005981.5:c.*1948G>A (TSPAN31) MANE Select NP_005972.1:n.*1948G>A
NM_001330168.2:c.*1948G>A (TSPAN31) NP_001317097.1:n.*1948G>A
NM_001330169.2:c.*1948G>A (TSPAN31) NP_001317098.1:n.*1948G>A
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