Canonical Allele Identifier: CA6657775

Gene: CDK4

Linked Data

• ClinVar Variation Id: 3230239
• ClinVar RCV Id: RCV004520390
• dbSNP Id: rs576339013
• ExAC: 12:58144482 T / C
• gnomAD v2: 12-58144482-T-C
• gnomAD v3: 12-57750699-T-C
• gnomAD v4: 12-57750699-T-C
• MyVariant Identifiers: chr12:g.58144482T>C (hg19) ; chr12:g.57750699T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750699T>C , CM000674.2:g.57750699T>C	GRCh38
NC_000012.11:g.58144482T>C , CM000674.1:g.58144482T>C	GRCh37
NC_000012.10:g.56430749T>C	NCBI36
NG_007484.2:g.6683A>G , LRG_490:g.6683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.589A>G MANE Select	ENSP00000257904.5:p.Met197Val
ENST00000257904.10:c.589A>G	ENSP00000257904.5:p.Met197Val
ENST00000312990.10:c.265-28A>G	ENSP00000316889.6:n.265-28A>G
ENST00000546489.5:c.367A>G	ENSP00000447779.1:p.Met123Val
ENST00000547281.5:c.367A>G	ENSP00000447274.1:p.Met123Val
ENST00000549606.5:c.-157-1195A>G	ENSP00000447005.1:n.-157-1195A>G
ENST00000550419.5:c.523-136A>G	ENSP00000448098.1:n.523-136A>G
ENST00000551800.5:c.367A>G	ENSP00000449391.1:p.Met123Val
ENST00000551888.5:n.443-28A>G
ENST00000552254.5:c.589A>G	ENSP00000449179.1:p.Met197Val
ENST00000553237.5:c.*228A>G	ENSP00000448885.1:n.*228A>G
NM_000075.3:c.589A>G	NP_000066.1:p.Met197Val
NM_000075.4:c.589A>G MANE Select	NP_000066.1:p.Met197Val