Canonical Allele Identifier: CA6657817
Community Standard Title: NM_000075.4(CDK4):c.363G>A (p.Met121Ile)
Gene: CDK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57751082C>T , CM000674.2:g.57751082C>T GRCh38
NC_000012.11:g.58144865C>T , CM000674.1:g.58144865C>T GRCh37
NC_000012.10:g.56431132C>T NCBI36
NG_007484.2:g.6300G>A , LRG_490:g.6300G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000075.4:c.363G>A MANE Select NP_000066.1:p.Met121Ile
ENST00000257904.11:c.363G>A MANE Select ENSP00000257904.5:p.Met121Ile
NM_000075.3:c.363G>A NP_000066.1:p.Met121Ile
ENST00000257904.10:c.363G>A ENSP00000257904.5:p.Met121Ile
ENST00000312990.10:c.264+215G>A ENSP00000316889.6:n.264+215G>A
ENST00000546489.5:c.141G>A ENSP00000447779.1:p.Met47Ile
ENST00000547281.5:c.141G>A ENSP00000447274.1:p.Met47Ile
ENST00000549606.5:c.-158+1093G>A ENSP00000447005.1:n.-158+1093G>A
ENST00000550419.5:c.363G>A ENSP00000448098.1:p.Met121Ile
ENST00000551706.1:n.729G>A
ENST00000551800.5:c.141G>A ENSP00000449391.1:p.Met47Ile
ENST00000551888.5:n.442+215G>A
ENST00000552254.5:c.363G>A ENSP00000449179.1:p.Met121Ile
ENST00000552388.1:c.363G>A ENSP00000448963.1:p.Met121Ile
ENST00000553237.5:c.*2G>A ENSP00000448885.1:n.*2G>A