Canonical Allele Identifier: CA6657799

Gene: CDK4

Linked Data

• dbSNP Id: rs768904034
• ExAC: 12:58144711 G / A
• gnomAD v2: 12-58144711-G-A
• gnomAD v4: 12-57750928-G-A
• MyVariant Identifiers: chr12:g.58144711G>A (hg19) ; chr12:g.57750928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750928G>A , CM000674.2:g.57750928G>A	GRCh38
NC_000012.11:g.58144711G>A , CM000674.1:g.58144711G>A	GRCh37
NC_000012.10:g.56430978G>A	NCBI36
NG_007484.2:g.6454C>T , LRG_490:g.6454C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.517C>T MANE Select	ENSP00000257904.5:p.Pro173Ser
ENST00000257904.10:c.517C>T	ENSP00000257904.5:p.Pro173Ser
ENST00000312990.10:c.265-257C>T	ENSP00000316889.6:n.265-257C>T
ENST00000546489.5:c.295C>T	ENSP00000447779.1:p.Pro99Ser
ENST00000547281.5:c.295C>T	ENSP00000447274.1:p.Pro99Ser
ENST00000549606.5:c.-158+1247C>T	ENSP00000447005.1:n.-158+1247C>T
ENST00000550419.5:c.517C>T	ENSP00000448098.1:p.Pro173Ser
ENST00000551706.1:n.883C>T
ENST00000551800.5:c.295C>T	ENSP00000449391.1:p.Pro99Ser
ENST00000551888.5:n.443-257C>T
ENST00000552254.5:c.517C>T	ENSP00000449179.1:p.Pro173Ser
ENST00000553237.5:c.*156C>T	ENSP00000448885.1:n.*156C>T
NM_000075.3:c.517C>T	NP_000066.1:p.Pro173Ser
NM_000075.4:c.517C>T MANE Select	NP_000066.1:p.Pro173Ser