Canonical Allele Identifier: CA948106096

Gene: CDK4

Linked Data

• dbSNP Id: rs1955224524
• gnomAD v3: 12-57750590-T-C
• gnomAD v4: 12-57750590-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750590T>C , CM000674.2:g.57750590T>C	GRCh38
NC_000012.11:g.58144373T>C , CM000674.1:g.58144373T>C	GRCh37
NC_000012.10:g.56430640T>C	NCBI36
NG_007484.2:g.6792A>G , LRG_490:g.6792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+66A>G MANE Select	ENSP00000257904.5:n.632+66A>G
ENST00000257904.10:c.632+66A>G	ENSP00000257904.5:n.632+66A>G
ENST00000312990.10:c.280+66A>G	ENSP00000316889.6:n.280+66A>G
ENST00000546489.5:c.410+66A>G	ENSP00000447779.1:n.410+66A>G
ENST00000547281.5:c.410+66A>G	ENSP00000447274.1:n.410+66A>G
ENST00000549606.5:c.-157-1086A>G	ENSP00000447005.1:n.-157-1086A>G
ENST00000550419.5:c.523-27A>G	ENSP00000448098.1:n.523-27A>G
ENST00000551888.5:n.458+66A>G
ENST00000553237.5:c.*271+66A>G	ENSP00000448885.1:n.*271+66A>G
NM_000075.3:c.632+66A>G	NP_000066.1:n.632+66A>G
NM_000075.4:c.632+66A>G MANE Select	NP_000066.1:n.632+66A>G