Canonical Allele Identifier: CA690320337

Gene: CDK4

Linked Data

• dbSNP Id: rs572034052
• gnomAD v3: 12-57750295-G-A
• gnomAD v4: 12-57750295-G-A
• MyVariant Identifiers: chr12:g.58144078G>A (hg19) ; chr12:g.57750295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750295G>A , CM000674.2:g.57750295G>A	GRCh38
NC_000012.11:g.58144078G>A , CM000674.1:g.58144078G>A	GRCh37
NC_000012.10:g.56430345G>A	NCBI36
NG_007484.2:g.7087C>T , LRG_490:g.7087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+361C>T MANE Select	ENSP00000257904.5:n.632+361C>T
ENST00000257904.10:c.632+361C>T	ENSP00000257904.5:n.632+361C>T
ENST00000312990.10:c.280+361C>T	ENSP00000316889.6:n.280+361C>T
ENST00000546489.5:c.410+361C>T	ENSP00000447779.1:n.410+361C>T
ENST00000547281.5:c.410+361C>T	ENSP00000447274.1:n.410+361C>T
ENST00000549606.5:c.-157-791C>T	ENSP00000447005.1:n.-157-791C>T
ENST00000550419.5:c.*38+147C>T	ENSP00000448098.1:n.*38+147C>T
ENST00000551888.5:n.458+361C>T
ENST00000553237.5:c.*271+361C>T	ENSP00000448885.1:n.*271+361C>T
NM_000075.3:c.632+361C>T	NP_000066.1:n.632+361C>T
NM_000075.4:c.632+361C>T MANE Select	NP_000066.1:n.632+361C>T