Canonical Allele Identifier: CA385545966

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1747167
• ClinVar RCV Id: RCV002347127
• dbSNP Id: rs2140385865
• MyVariant Identifiers: chr12:g.58144534C>A (hg19) ; chr12:g.57750751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750751C>A , CM000674.2:g.57750751C>A	GRCh38
NC_000012.11:g.58144534C>A , CM000674.1:g.58144534C>A	GRCh37
NC_000012.10:g.56430801C>A	NCBI36
NG_007484.2:g.6631G>T , LRG_490:g.6631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.537G>T MANE Select	ENSP00000257904.5:p.Trp179Cys
ENST00000257904.10:c.537G>T	ENSP00000257904.5:p.Trp179Cys
ENST00000312990.10:c.265-80G>T	ENSP00000316889.6:n.265-80G>T
ENST00000546489.5:c.315G>T	ENSP00000447779.1:p.Trp105Cys
ENST00000547281.5:c.315G>T	ENSP00000447274.1:p.Trp105Cys
ENST00000549606.5:c.-157-1247G>T	ENSP00000447005.1:n.-157-1247G>T
ENST00000550419.5:c.522+172G>T	ENSP00000448098.1:n.522+172G>T
ENST00000551800.5:c.315G>T	ENSP00000449391.1:p.Trp105Cys
ENST00000551888.5:n.443-80G>T
ENST00000552254.5:c.537G>T	ENSP00000449179.1:p.Trp179Cys
ENST00000553237.5:c.*176G>T	ENSP00000448885.1:n.*176G>T
NM_000075.3:c.537G>T	NP_000066.1:p.Trp179Cys
NM_000075.4:c.537G>T MANE Select	NP_000066.1:p.Trp179Cys