Canonical Allele Identifier: CA350649

Gene: CDK4

Linked Data

• ClinVar Variation Id: 220383
• ClinVar RCV Id: RCV001492994 ; RCV002354578
• dbSNP Id: rs864622504
• MyVariant Identifiers: chr12:g.58144462G>T (hg19) ; chr12:g.57750679G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750679G>T , CM000674.2:g.57750679G>T	GRCh38
NC_000012.11:g.58144462G>T , CM000674.1:g.58144462G>T	GRCh37
NC_000012.10:g.56430729G>T	NCBI36
NG_007484.2:g.6703C>A , LRG_490:g.6703C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.609C>A MANE Select	ENSP00000257904.5:p.Ile203=
ENST00000257904.10:c.609C>A	ENSP00000257904.5:p.Ile203=
ENST00000312990.10:c.265-8C>A	ENSP00000316889.6:n.265-8C>A
ENST00000546489.5:c.387C>A	ENSP00000447779.1:p.Ile129=
ENST00000547281.5:c.387C>A	ENSP00000447274.1:p.Ile129=
ENST00000549606.5:c.-157-1175C>A	ENSP00000447005.1:n.-157-1175C>A
ENST00000550419.5:c.523-116C>A	ENSP00000448098.1:n.523-116C>A
ENST00000551800.5:c.387C>A	ENSP00000449391.1:p.Ile129=
ENST00000551888.5:n.443-8C>A
ENST00000552254.5:c.609C>A	ENSP00000449179.1:p.Ile203=
ENST00000553237.5:c.*248C>A	ENSP00000448885.1:n.*248C>A
NM_000075.3:c.609C>A	NP_000066.1:p.Ile203=
NM_000075.4:c.609C>A MANE Select	NP_000066.1:p.Ile203=