Canonical Allele Identifier: CA385545524

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1039892
• ClinVar RCV Id: RCV001343450
• dbSNP Id: rs373619077
• MyVariant Identifiers: chr12:g.58144442C>A (hg19) ; chr12:g.57750659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750659C>A , CM000674.2:g.57750659C>A	GRCh38
NC_000012.11:g.58144442C>A , CM000674.1:g.58144442C>A	GRCh37
NC_000012.10:g.56430709C>A	NCBI36
NG_007484.2:g.6723G>T , LRG_490:g.6723G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.629G>T MANE Select	ENSP00000257904.5:p.Arg210Leu
ENST00000257904.10:c.629G>T	ENSP00000257904.5:p.Arg210Leu
ENST00000312990.10:c.277G>T	ENSP00000316889.6:p.Glu93Ter
ENST00000546489.5:c.407G>T	ENSP00000447779.1:p.Arg136Leu
ENST00000547281.5:c.407G>T	ENSP00000447274.1:p.Arg136Leu
ENST00000549606.5:c.-157-1155G>T	ENSP00000447005.1:n.-157-1155G>T
ENST00000550419.5:c.523-96G>T	ENSP00000448098.1:n.523-96G>T
ENST00000551888.5:n.455G>T
ENST00000553237.5:c.*268G>T	ENSP00000448885.1:n.*268G>T
NM_000075.3:c.629G>T	NP_000066.1:p.Arg210Leu
NM_000075.4:c.629G>T MANE Select	NP_000066.1:p.Arg210Leu