Canonical Allele Identifier: CA605327091

Gene: CDK4

Linked Data

• dbSNP Id: rs1265912693
• gnomAD v2: 12-58144339-G-A
• gnomAD v4: 12-57750556-G-A
• MyVariant Identifiers: chr12:g.58144339G>A (hg19) ; chr12:g.57750556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750556G>A , CM000674.2:g.57750556G>A	GRCh38
NC_000012.11:g.58144339G>A , CM000674.1:g.58144339G>A	GRCh37
NC_000012.10:g.56430606G>A	NCBI36
NG_007484.2:g.6826C>T , LRG_490:g.6826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+100C>T MANE Select	ENSP00000257904.5:n.632+100C>T
ENST00000257904.10:c.632+100C>T	ENSP00000257904.5:n.632+100C>T
ENST00000312990.10:c.280+100C>T	ENSP00000316889.6:n.280+100C>T
ENST00000546489.5:c.410+100C>T	ENSP00000447779.1:n.410+100C>T
ENST00000547281.5:c.410+100C>T	ENSP00000447274.1:n.410+100C>T
ENST00000549606.5:c.-157-1052C>T	ENSP00000447005.1:n.-157-1052C>T
ENST00000550419.5:c.530C>T	ENSP00000448098.1:p.Ala177Val
ENST00000551888.5:n.458+100C>T
ENST00000553237.5:c.*271+100C>T	ENSP00000448885.1:n.*271+100C>T
NM_000075.3:c.632+100C>T	NP_000066.1:n.632+100C>T
NM_000075.4:c.632+100C>T MANE Select	NP_000066.1:n.632+100C>T