Canonical Allele Identifier: CA237843803

Gene: CDK4 TSPAN31

Linked Data

• dbSNP Id: rs990782656
• gnomAD v3: 12-57750139-G-A
• gnomAD v4: 12-57750139-G-A
• MyVariant Identifiers: chr12:g.58143922G>A (hg19) ; chr12:g.57750139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750139G>A , CM000674.2:g.57750139G>A	GRCh38
NC_000012.11:g.58143922G>A , CM000674.1:g.58143922G>A	GRCh37
NC_000012.10:g.56430189G>A	NCBI36
NG_007484.2:g.7243C>T , LRG_490:g.7243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+517C>T (CDK4) MANE Select	ENSP00000257904.5:n.632+517C>T
ENST00000257910.8:c.*2849G>A (TSPAN31) MANE Select	ENSP00000257910.3:n.*2849G>A
ENST00000257904.10:c.632+517C>T (CDK4)	ENSP00000257904.5:n.632+517C>T
ENST00000312990.10:c.280+517C>T (CDK4)	ENSP00000316889.6:n.280+517C>T
ENST00000546489.5:c.410+517C>T (CDK4)	ENSP00000447779.1:n.410+517C>T
ENST00000547281.5:c.410+517C>T (CDK4)	ENSP00000447274.1:n.410+517C>T
ENST00000547992.5:c.*2849G>A (TSPAN31)	ENSP00000448209.1:n.*2849G>A
ENST00000549606.5:c.-157-635C>T (CDK4)	ENSP00000447005.1:n.-157-635C>T
ENST00000550419.5:c.*38+303C>T (CDK4)	ENSP00000448098.1:n.*38+303C>T
ENST00000551888.5:n.458+517C>T (CDK4)
ENST00000553237.5:c.*271+517C>T (CDK4)	ENSP00000448885.1:n.*271+517C>T
NM_000075.3:c.632+517C>T (CDK4)	NP_000066.1:n.632+517C>T
NM_000075.4:c.632+517C>T (CDK4) MANE Select	NP_000066.1:n.632+517C>T
NM_005981.5:c.*2849G>A (TSPAN31) MANE Select	NP_005972.1:n.*2849G>A
NM_001330168.2:c.*2849G>A (TSPAN31)	NP_001317097.1:n.*2849G>A
NM_001330169.2:c.*2849G>A (TSPAN31)	NP_001317098.1:n.*2849G>A