Canonical Allele Identifier: CA1569528

Gene: CGREF1 KHK

Linked Data

• ClinVar Variation Id: 335514
• ClinVar RCV Id: RCV000405925
• dbSNP Id: rs73921452
• ExAC: 2:27323372 T / C
• gnomAD v2: 2-27323372-T-C
• gnomAD v3: 2-27100504-T-C
• gnomAD v4: 2-27100504-T-C
• MyVariant Identifiers: chr2:g.27323372T>C (hg19) ; chr2:g.27100504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27100504T>C , CM000664.2:g.27100504T>C	GRCh38
NC_000002.11:g.27323372T>C , CM000664.1:g.27323372T>C	GRCh37
NC_000002.10:g.27176876T>C	NCBI36
NG_012199.1:g.18762T>C
NG_012199.2:g.18762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.402A>G (CGREF1)
ENST00000260599.11:c.*754T>C (KHK)	ENSP00000260599.6:n.*754T>C
ENST00000260598.10:c.*754T>C (KHK) MANE Select	ENSP00000260598.5:n.*754T>C
ENST00000640154.1:c.194A>G (CGREF1)	ENSP00000491464.1:p.Asn65Ser
ENST00000260598.9:c.*754T>C (KHK)	ENSP00000260598.5:n.*754T>C
ENST00000260599.10:c.*754T>C (KHK)	ENSP00000260599.6:n.*754T>C
ENST00000402550.5:c.343-664A>G (CGREF1)	ENSP00000385103.1:n.343-664A>G
ENST00000440612.5:c.*218A>G (CGREF1)	ENSP00000394306.1:n.*218A>G
NM_000221.2:c.*754T>C (KHK)	NP_000212.1:n.*754T>C
NM_001166240.1:c.343-664A>G (CGREF1)	NP_001159712.1:n.343-664A>G
NM_001301324.1:c.325A>G (CGREF1)	NP_001288253.1:p.Ile109Val
NM_006488.2:c.*754T>C (KHK)	NP_006479.1:n.*754T>C
XM_005264298.2:c.*754T>C (KHK)	XP_005264355.1:n.*754T>C
XM_005264294.4:c.*754T>C (KHK)	XP_005264351.1:n.*754T>C
XM_005264296.4:c.*754T>C (KHK)	XP_005264353.1:n.*754T>C
XM_005264298.4:c.*754T>C (KHK)	XP_005264355.1:n.*754T>C
XM_017004060.2:c.*754T>C (KHK)	XP_016859549.1:n.*754T>C
XM_017004061.2:c.*754T>C (KHK)	XP_016859550.1:n.*754T>C
NM_006488.3:c.*754T>C (KHK) MANE Select	NP_006479.1:n.*754T>C
NM_000221.3:c.*754T>C (KHK)	NP_000212.1:n.*754T>C
NM_001166240.2:c.343-664A>G (CGREF1)	NP_001159712.1:n.343-664A>G
NM_001301324.2:c.325A>G (CGREF1)	NP_001288253.1:p.Ile109Val