Canonical Allele Identifier: CA385546118
Gene: CDK4 HGNC NCBI

Linked Data

dbSNP Id: rs2140386312

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57750933A>G , CM000674.2:g.57750933A>G GRCh38
NC_000012.11:g.58144716A>G , CM000674.1:g.58144716A>G GRCh37
NC_000012.10:g.56430983A>G NCBI36
NG_007484.2:g.6449T>C , LRG_490:g.6449T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000257904.11:c.512T>C MANE Select ENSP00000257904.5:p.Leu171Pro
ENST00000257904.10:c.512T>C ENSP00000257904.5:p.Leu171Pro
ENST00000312990.10:c.265-262T>C ENSP00000316889.6:n.265-262T>C
ENST00000546489.5:c.290T>C ENSP00000447779.1:p.Leu97Pro
ENST00000547281.5:c.290T>C ENSP00000447274.1:p.Leu97Pro
ENST00000549606.5:c.-158+1242T>C ENSP00000447005.1:n.-158+1242T>C
ENST00000550419.5:c.512T>C ENSP00000448098.1:p.Leu171Pro
ENST00000551706.1:n.878T>C
ENST00000551800.5:c.290T>C ENSP00000449391.1:p.Leu97Pro
ENST00000551888.5:n.443-262T>C
ENST00000552254.5:c.512T>C ENSP00000449179.1:p.Leu171Pro
ENST00000553237.5:c.*151T>C ENSP00000448885.1:n.*151T>C
NM_000075.3:c.512T>C NP_000066.1:p.Leu171Pro
NM_000075.4:c.512T>C MANE Select NP_000066.1:p.Leu171Pro