Canonical Allele Identifier: CA690320320

Gene: CDK4

Linked Data

• dbSNP Id: rs1275786656
• gnomAD v2: 12-58144053-T-G
• gnomAD v3: 12-57750270-T-G
• gnomAD v4: 12-57750270-T-G
• MyVariant Identifiers: chr12:g.58144053T>G (hg19) ; chr12:g.57750270T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750270T>G , CM000674.2:g.57750270T>G	GRCh38
NC_000012.11:g.58144053T>G , CM000674.1:g.58144053T>G	GRCh37
NC_000012.10:g.56430320T>G	NCBI36
NG_007484.2:g.7112A>C , LRG_490:g.7112A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+386A>C MANE Select	ENSP00000257904.5:n.632+386A>C
ENST00000257904.10:c.632+386A>C	ENSP00000257904.5:n.632+386A>C
ENST00000312990.10:c.280+386A>C	ENSP00000316889.6:n.280+386A>C
ENST00000546489.5:c.410+386A>C	ENSP00000447779.1:n.410+386A>C
ENST00000547281.5:c.410+386A>C	ENSP00000447274.1:n.410+386A>C
ENST00000549606.5:c.-157-766A>C	ENSP00000447005.1:n.-157-766A>C
ENST00000550419.5:c.*38+172A>C	ENSP00000448098.1:n.*38+172A>C
ENST00000551888.5:n.458+386A>C
ENST00000553237.5:c.*271+386A>C	ENSP00000448885.1:n.*271+386A>C
NM_000075.3:c.632+386A>C	NP_000066.1:n.632+386A>C
NM_000075.4:c.632+386A>C MANE Select	NP_000066.1:n.632+386A>C