Canonical Allele Identifier: CA10642986

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 309967
• ClinVar RCV Id: RCV000300469
• dbSNP Id: rs886049709
• gnomAD v2: 12-58141619-G-A
• gnomAD v3: 12-57747836-G-A
• gnomAD v4: 12-57747836-G-A
• MyVariant Identifiers: chr12:g.58141619G>A (hg19) ; chr12:g.57747836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57747836G>A , CM000674.2:g.57747836G>A	GRCh38
NC_000012.11:g.58141619G>A , CM000674.1:g.58141619G>A	GRCh37
NC_000012.10:g.56427886G>A	NCBI36
NG_007484.2:g.9546C>T , LRG_490:g.9546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.*689C>T (CDK4) MANE Select	ENSP00000257904.5:n.*689C>T
ENST00000257910.8:c.*546G>A (TSPAN31) MANE Select	ENSP00000257910.3:n.*546G>A
ENST00000257904.10:c.*689C>T (CDK4)	ENSP00000257904.5:n.*689C>T
ENST00000257910.7:c.*546G>A (TSPAN31)	ENSP00000257910.3:n.*546G>A
ENST00000312990.10:c.*913C>T (CDK4)	ENSP00000316889.6:n.*913C>T
ENST00000546922.1:n.873G>A (TSPAN31)
ENST00000546993.5:n.1657G>A (TSPAN31)
ENST00000547992.5:c.*546G>A (TSPAN31)	ENSP00000448209.1:n.*546G>A
ENST00000550791.1:n.1736G>A (TSPAN31)
NM_000075.3:c.*689C>T (CDK4)	NP_000066.1:n.*689C>T
NM_005981.3:c.*546G>A (TSPAN31)	NP_005972.1:n.*546G>A
XM_005269074.2:c.*546G>A (TSPAN31)	XP_005269131.2:n.*546G>A
NM_001330168.1:c.*546G>A (TSPAN31)	NP_001317097.1:n.*546G>A
NM_001330169.1:c.*546G>A (TSPAN31)	NP_001317098.1:n.*546G>A
NM_005981.4:c.*546G>A (TSPAN31)	NP_005972.1:n.*546G>A
XM_024449123.1:c.*546G>A (TSPAN31)	XP_024304891.1:n.*546G>A
NM_000075.4:c.*689C>T (CDK4) MANE Select	NP_000066.1:n.*689C>T
NM_005981.5:c.*546G>A (TSPAN31) MANE Select	NP_005972.1:n.*546G>A
NM_001330168.2:c.*546G>A (TSPAN31)	NP_001317097.1:n.*546G>A
NM_001330169.2:c.*546G>A (TSPAN31)	NP_001317098.1:n.*546G>A