Canonical Allele Identifier: CA385547184
Community Standard Title: NM_000075.4(CDK4):c.363G>C (p.Met121Ile)
Gene: CDK4 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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