Canonical Allele Identifier: CA605327098

Gene: CDK4

Linked Data

• dbSNP Id: rs1391893448
• gnomAD v2: 12-58144365-G-A
• gnomAD v4: 12-57750582-G-A
• MyVariant Identifiers: chr12:g.58144365G>A (hg19) ; chr12:g.57750582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750582G>A , CM000674.2:g.57750582G>A	GRCh38
NC_000012.11:g.58144365G>A , CM000674.1:g.58144365G>A	GRCh37
NC_000012.10:g.56430632G>A	NCBI36
NG_007484.2:g.6800C>T , LRG_490:g.6800C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.632+74C>T MANE Select	ENSP00000257904.5:n.632+74C>T
ENST00000257904.10:c.632+74C>T	ENSP00000257904.5:n.632+74C>T
ENST00000312990.10:c.280+74C>T	ENSP00000316889.6:n.280+74C>T
ENST00000546489.5:c.410+74C>T	ENSP00000447779.1:n.410+74C>T
ENST00000547281.5:c.410+74C>T	ENSP00000447274.1:n.410+74C>T
ENST00000549606.5:c.-157-1078C>T	ENSP00000447005.1:n.-157-1078C>T
ENST00000550419.5:c.523-19C>T	ENSP00000448098.1:n.523-19C>T
ENST00000551888.5:n.458+74C>T
ENST00000553237.5:c.*271+74C>T	ENSP00000448885.1:n.*271+74C>T
NM_000075.3:c.632+74C>T	NP_000066.1:n.632+74C>T
NM_000075.4:c.632+74C>T MANE Select	NP_000066.1:n.632+74C>T