Canonical Allele Identifier: CA385546000

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2103779
• ClinVar RCV Id: RCV003022322
• dbSNP Id: rs2140385882
• gnomAD v4: 12-57750758-G-A
• MyVariant Identifiers: chr12:g.58144541G>A (hg19) ; chr12:g.57750758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750758G>A , CM000674.2:g.57750758G>A	GRCh38
NC_000012.11:g.58144541G>A , CM000674.1:g.58144541G>A	GRCh37
NC_000012.10:g.56430808G>A	NCBI36
NG_007484.2:g.6624C>T , LRG_490:g.6624C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.530C>T MANE Select	ENSP00000257904.5:p.Thr177Ile
ENST00000257904.10:c.530C>T	ENSP00000257904.5:p.Thr177Ile
ENST00000312990.10:c.265-87C>T	ENSP00000316889.6:n.265-87C>T
ENST00000546489.5:c.308C>T	ENSP00000447779.1:p.Thr103Ile
ENST00000547281.5:c.308C>T	ENSP00000447274.1:p.Thr103Ile
ENST00000549606.5:c.-157-1254C>T	ENSP00000447005.1:n.-157-1254C>T
ENST00000550419.5:c.522+165C>T	ENSP00000448098.1:n.522+165C>T
ENST00000551800.5:c.308C>T	ENSP00000449391.1:p.Thr103Ile
ENST00000551888.5:n.443-87C>T
ENST00000552254.5:c.530C>T	ENSP00000449179.1:p.Thr177Ile
ENST00000553237.5:c.*169C>T	ENSP00000448885.1:n.*169C>T
NM_000075.3:c.530C>T	NP_000066.1:p.Thr177Ile
NM_000075.4:c.530C>T MANE Select	NP_000066.1:p.Thr177Ile