Canonical Allele Identifier: CA6657858

Gene: CDK4

Linked Data

• ClinVar Variation Id: 495533
• ClinVar RCV Id: RCV000586402 ; RCV001436444
• dbSNP Id: rs759302811
• ExAC: 12:58145135 G / A
• gnomAD v2: 12-58145135-G-A
• gnomAD v4: 12-57751352-G-A
• MyVariant Identifiers: chr12:g.58145135G>A (hg19) ; chr12:g.57751352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751352G>A , CM000674.2:g.57751352G>A	GRCh38
NC_000012.11:g.58145135G>A , CM000674.1:g.58145135G>A	GRCh37
NC_000012.10:g.56431402G>A	NCBI36
NG_007484.2:g.6030C>T , LRG_490:g.6030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.219-10C>T MANE Select	ENSP00000257904.5:n.219-10C>T
ENST00000257904.10:c.219-10C>T	ENSP00000257904.5:n.219-10C>T
ENST00000312990.10:c.219-10C>T	ENSP00000316889.6:n.219-10C>T
ENST00000546489.5:c.-4-10C>T	ENSP00000447779.1:n.-4-10C>T
ENST00000547281.5:c.-4-10C>T	ENSP00000447274.1:n.-4-10C>T
ENST00000549606.5:c.-158+823C>T	ENSP00000447005.1:n.-158+823C>T
ENST00000550419.5:c.219-10C>T	ENSP00000448098.1:n.219-10C>T
ENST00000551706.1:n.575C>T
ENST00000551800.5:c.-4-10C>T	ENSP00000449391.1:n.-4-10C>T
ENST00000551888.5:n.397-10C>T
ENST00000552254.5:c.219-10C>T	ENSP00000449179.1:n.219-10C>T
ENST00000552388.1:c.219-10C>T	ENSP00000448963.1:n.219-10C>T
ENST00000552862.1:c.219-10C>T	ENSP00000446763.1:n.219-10C>T
ENST00000553237.5:c.218+148C>T	ENSP00000448885.1:n.218+148C>T
NM_000075.3:c.219-10C>T	NP_000066.1:n.219-10C>T
NM_000075.4:c.219-10C>T MANE Select	NP_000066.1:n.219-10C>T