Canonical Allele Identifier: CA385545560

Gene: CDK4

Linked Data

• ClinVar Variation Id: 852173
• ClinVar RCV Id: RCV001056730
• dbSNP Id: rs1339920302
• gnomAD v3: 12-57750668-A-T
• gnomAD v4: 12-57750668-A-T
• MyVariant Identifiers: chr12:g.58144451A>T (hg19) ; chr12:g.57750668A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750668A>T , CM000674.2:g.57750668A>T	GRCh38
NC_000012.11:g.58144451A>T , CM000674.1:g.58144451A>T	GRCh37
NC_000012.10:g.56430718A>T	NCBI36
NG_007484.2:g.6714T>A , LRG_490:g.6714T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.620T>A MANE Select	ENSP00000257904.5:p.Met207Lys
ENST00000257904.10:c.620T>A	ENSP00000257904.5:p.Met207Lys
ENST00000312990.10:c.268T>A	ENSP00000316889.6:p.Cys90Ser
ENST00000546489.5:c.398T>A	ENSP00000447779.1:p.Met133Lys
ENST00000547281.5:c.398T>A	ENSP00000447274.1:p.Met133Lys
ENST00000549606.5:c.-157-1164T>A	ENSP00000447005.1:n.-157-1164T>A
ENST00000550419.5:c.523-105T>A	ENSP00000448098.1:n.523-105T>A
ENST00000551888.5:n.446T>A
ENST00000553237.5:c.*259T>A	ENSP00000448885.1:n.*259T>A
NM_000075.3:c.620T>A	NP_000066.1:p.Met207Lys
NM_000075.4:c.620T>A MANE Select	NP_000066.1:p.Met207Lys