Canonical Allele Identifier: CA480404843

Gene: CDK4

Linked Data

• dbSNP Id: rs1333040490
• gnomAD v2: 12-58145330-C-T
• gnomAD v4: 12-57751547-C-T
• MyVariant Identifiers: chr12:g.58145330C>T (hg19) ; chr12:g.57751547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751547C>T , CM000674.2:g.57751547C>T	GRCh38
NC_000012.11:g.58145330C>T , CM000674.1:g.58145330C>T	GRCh37
NC_000012.10:g.56431597C>T	NCBI36
NG_007484.2:g.5835G>A , LRG_490:g.5835G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.171G>A MANE Select	ENSP00000257904.5:p.Val57=
ENST00000257904.10:c.171G>A	ENSP00000257904.5:p.Val57=
ENST00000312990.10:c.171G>A	ENSP00000316889.6:p.Val57=
ENST00000546489.5:c.-4-205G>A	ENSP00000447779.1:n.-4-205G>A
ENST00000547281.5:c.-52G>A	ENSP00000447274.1:n.-52G>A
ENST00000549606.5:c.-158+628G>A	ENSP00000447005.1:n.-158+628G>A
ENST00000550419.5:c.171G>A	ENSP00000448098.1:p.Val57=
ENST00000551706.1:n.380G>A
ENST00000551800.5:c.-52G>A	ENSP00000449391.1:n.-52G>A
ENST00000551888.5:n.349G>A
ENST00000552254.5:c.171G>A	ENSP00000449179.1:p.Val57=
ENST00000552388.1:c.171G>A	ENSP00000448963.1:p.Val57=
ENST00000552862.1:c.171G>A	ENSP00000446763.1:p.Val57=
ENST00000553237.5:c.171G>A	ENSP00000448885.1:p.Val57=
NM_000075.3:c.171G>A	NP_000066.1:p.Val57=
NM_000075.4:c.171G>A MANE Select	NP_000066.1:p.Val57=