Canonical Allele Identifier: CA10613051

Gene: CGREF1 KHK

Linked Data

• ClinVar Variation Id: 335507
• ClinVar RCV Id: RCV000331673
• dbSNP Id: rs886055893
• gnomAD v4: 2-27099948-A-C
• MyVariant Identifiers: chr2:g.27322816A>C (hg19) ; chr2:g.27099948A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27099948A>C , CM000664.2:g.27099948A>C	GRCh38
NC_000002.11:g.27322816A>C , CM000664.1:g.27322816A>C	GRCh37
NC_000002.10:g.27176320A>C	NCBI36
NG_012199.1:g.18206A>C
NG_012199.2:g.18206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.491-108T>G (CGREF1)
ENST00000260599.11:c.*198A>C (KHK)	ENSP00000260599.6:n.*198A>C
ENST00000429697.2:c.*198A>C (KHK)	ENSP00000404741.2:n.*198A>C
ENST00000260598.10:c.*198A>C (KHK) MANE Select	ENSP00000260598.5:n.*198A>C
ENST00000640154.1:c.283-108T>G (CGREF1)	ENSP00000491464.1:n.283-108T>G
ENST00000260598.9:c.*198A>C (KHK)	ENSP00000260598.5:n.*198A>C
ENST00000260599.10:c.*198A>C (KHK)	ENSP00000260599.6:n.*198A>C
ENST00000402550.5:c.343-108T>G (CGREF1)	ENSP00000385103.1:n.343-108T>G
ENST00000440612.5:c.*307-108T>G (CGREF1)	ENSP00000394306.1:n.*307-108T>G
ENST00000464371.1:n.1021A>C (KHK)
NM_000221.2:c.*198A>C (KHK)	NP_000212.1:n.*198A>C
NM_001166240.1:c.343-108T>G (CGREF1)	NP_001159712.1:n.343-108T>G
NM_001301324.1:c.*21-108T>G (CGREF1)	NP_001288253.1:n.*21-108T>G
NM_006488.2:c.*198A>C (KHK)	NP_006479.1:n.*198A>C
XM_005264294.2:c.*198A>C (KHK)	XP_005264351.1:n.*198A>C
XM_005264296.2:c.*198A>C (KHK)	XP_005264353.1:n.*198A>C
XM_005264298.2:c.*198A>C (KHK)	XP_005264355.1:n.*198A>C
XM_005264294.4:c.*198A>C (KHK)	XP_005264351.1:n.*198A>C
XM_005264296.4:c.*198A>C (KHK)	XP_005264353.1:n.*198A>C
XM_005264298.4:c.*198A>C (KHK)	XP_005264355.1:n.*198A>C
XM_017004060.2:c.*198A>C (KHK)	XP_016859549.1:n.*198A>C
XM_017004061.2:c.*198A>C (KHK)	XP_016859550.1:n.*198A>C
NM_006488.3:c.*198A>C (KHK) MANE Select	NP_006479.1:n.*198A>C
NM_000221.3:c.*198A>C (KHK)	NP_000212.1:n.*198A>C
NM_001166240.2:c.343-108T>G (CGREF1)	NP_001159712.1:n.343-108T>G
NM_001301324.2:c.*21-108T>G (CGREF1)	NP_001288253.1:n.*21-108T>G