Canonical Allele Identifier: CA10642115

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 309976
• ClinVar RCV Id: RCV000328160
• dbSNP Id: rs763088789
• gnomAD v2: 12-58142062-C-A
• gnomAD v3: 12-57748279-C-A
• gnomAD v4: 12-57748279-C-A
• MyVariant Identifiers: chr12:g.58142062C>A (hg19) ; chr12:g.57748279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57748279C>A , CM000674.2:g.57748279C>A	GRCh38
NC_000012.11:g.58142062C>A , CM000674.1:g.58142062C>A	GRCh37
NC_000012.10:g.56428329C>A	NCBI36
NG_007484.2:g.9103G>T , LRG_490:g.9103G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.*246G>T (CDK4) MANE Select	ENSP00000257904.5:n.*246G>T
ENST00000257910.8:c.*989C>A (TSPAN31) MANE Select	ENSP00000257910.3:n.*989C>A
ENST00000257904.10:c.*246G>T (CDK4)	ENSP00000257904.5:n.*246G>T
ENST00000312990.10:c.*470G>T (CDK4)	ENSP00000316889.6:n.*470G>T
ENST00000547992.5:c.*989C>A (TSPAN31)	ENSP00000448209.1:n.*989C>A
NM_000075.3:c.*246G>T (CDK4)	NP_000066.1:n.*246G>T
NM_000075.4:c.*246G>T (CDK4) MANE Select	NP_000066.1:n.*246G>T
NM_005981.5:c.*989C>A (TSPAN31) MANE Select	NP_005972.1:n.*989C>A
NM_001330168.2:c.*989C>A (TSPAN31)	NP_001317097.1:n.*989C>A
NM_001330169.2:c.*989C>A (TSPAN31)	NP_001317098.1:n.*989C>A