Canonical Allele Identifier: CA480301396

Gene: CDK4

Linked Data

• ClinVar Variation Id: 681532
• ClinVar RCV Id: RCV000841455 ; RCV001023960 ; RCV001396661
• dbSNP Id: rs11547327
• MyVariant Identifiers: chr12:g.58144537G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750754G>C , CM000674.2:g.57750754G>C	GRCh38
NC_000012.11:g.58144537G>C , CM000674.1:g.58144537G>C	GRCh37
NC_000012.10:g.56430804G>C	NCBI36
NG_007484.2:g.6628C>G , LRG_490:g.6628C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.534C>G MANE Select	ENSP00000257904.5:p.Leu178=
ENST00000257904.10:c.534C>G	ENSP00000257904.5:p.Leu178=
ENST00000312990.10:c.265-83C>G	ENSP00000316889.6:n.265-83C>G
ENST00000546489.5:c.312C>G	ENSP00000447779.1:p.Leu104=
ENST00000547281.5:c.312C>G	ENSP00000447274.1:p.Leu104=
ENST00000549606.5:c.-157-1250C>G	ENSP00000447005.1:n.-157-1250C>G
ENST00000550419.5:c.522+169C>G	ENSP00000448098.1:n.522+169C>G
ENST00000551800.5:c.312C>G	ENSP00000449391.1:p.Leu104=
ENST00000551888.5:n.443-83C>G
ENST00000552254.5:c.534C>G	ENSP00000449179.1:p.Leu178=
ENST00000553237.5:c.*173C>G	ENSP00000448885.1:n.*173C>G
NM_000075.3:c.534C>G	NP_000066.1:p.Leu178=
NM_000075.4:c.534C>G MANE Select	NP_000066.1:p.Leu178=