Canonical Allele Identifier: CA480404350
Gene: CDK4 HGNC NCBI

Linked Data

dbSNP Id: rs2140386280
MyVariant Identifiers: chr12:g.58144706C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57750923C>G , CM000674.2:g.57750923C>G GRCh38
NC_000012.11:g.58144706C>G , CM000674.1:g.58144706C>G GRCh37
NC_000012.10:g.56430973C>G NCBI36
NG_007484.2:g.6459G>C , LRG_490:g.6459G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000257904.11:c.522G>C MANE Select ENSP00000257904.5:p.Val174=
ENST00000257904.10:c.522G>C ENSP00000257904.5:p.Val174=
ENST00000312990.10:c.265-252G>C ENSP00000316889.6:n.265-252G>C
ENST00000546489.5:c.300G>C ENSP00000447779.1:p.Val100=
ENST00000547281.5:c.300G>C ENSP00000447274.1:p.Val100=
ENST00000549606.5:c.-158+1252G>C ENSP00000447005.1:n.-158+1252G>C
ENST00000550419.5:c.522G>C ENSP00000448098.1:p.Val174=
ENST00000551706.1:n.888G>C
ENST00000551800.5:c.300G>C ENSP00000449391.1:p.Val100=
ENST00000551888.5:n.443-252G>C
ENST00000552254.5:c.522G>C ENSP00000449179.1:p.Val174=
ENST00000553237.5:c.*161G>C ENSP00000448885.1:n.*161G>C
NM_000075.3:c.522G>C NP_000066.1:p.Val174=
NM_000075.4:c.522G>C MANE Select NP_000066.1:p.Val174=