Canonical Allele Identifier: CA10613475

Gene: CGREF1 KHK

Linked Data

• ClinVar Variation Id: 335508
• ClinVar RCV Id: RCV000383972
• dbSNP Id: rs751205514
• gnomAD v3: 2-27099950-A-G
• gnomAD v4: 2-27099950-A-G
• MyVariant Identifiers: chr2:g.27322818A>G (hg19) ; chr2:g.27099950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27099950A>G , CM000664.2:g.27099950A>G	GRCh38
NC_000002.11:g.27322818A>G , CM000664.1:g.27322818A>G	GRCh37
NC_000002.10:g.27176322A>G	NCBI36
NG_012199.1:g.18208A>G
NG_012199.2:g.18208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.491-110T>C (CGREF1)
ENST00000260599.11:c.*200A>G (KHK)	ENSP00000260599.6:n.*200A>G
ENST00000429697.2:c.*200A>G (KHK)	ENSP00000404741.2:n.*200A>G
ENST00000260598.10:c.*200A>G (KHK) MANE Select	ENSP00000260598.5:n.*200A>G
ENST00000640154.1:c.283-110T>C (CGREF1)	ENSP00000491464.1:n.283-110T>C
ENST00000260598.9:c.*200A>G (KHK)	ENSP00000260598.5:n.*200A>G
ENST00000260599.10:c.*200A>G (KHK)	ENSP00000260599.6:n.*200A>G
ENST00000402550.5:c.343-110T>C (CGREF1)	ENSP00000385103.1:n.343-110T>C
ENST00000440612.5:c.*307-110T>C (CGREF1)	ENSP00000394306.1:n.*307-110T>C
ENST00000464371.1:n.1023A>G (KHK)
NM_000221.2:c.*200A>G (KHK)	NP_000212.1:n.*200A>G
NM_001166240.1:c.343-110T>C (CGREF1)	NP_001159712.1:n.343-110T>C
NM_001301324.1:c.*21-110T>C (CGREF1)	NP_001288253.1:n.*21-110T>C
NM_006488.2:c.*200A>G (KHK)	NP_006479.1:n.*200A>G
XM_005264294.2:c.*200A>G (KHK)	XP_005264351.1:n.*200A>G
XM_005264296.2:c.*200A>G (KHK)	XP_005264353.1:n.*200A>G
XM_005264298.2:c.*200A>G (KHK)	XP_005264355.1:n.*200A>G
XM_005264294.4:c.*200A>G (KHK)	XP_005264351.1:n.*200A>G
XM_005264296.4:c.*200A>G (KHK)	XP_005264353.1:n.*200A>G
XM_005264298.4:c.*200A>G (KHK)	XP_005264355.1:n.*200A>G
XM_017004060.2:c.*200A>G (KHK)	XP_016859549.1:n.*200A>G
XM_017004061.2:c.*200A>G (KHK)	XP_016859550.1:n.*200A>G
NM_006488.3:c.*200A>G (KHK) MANE Select	NP_006479.1:n.*200A>G
NM_000221.3:c.*200A>G (KHK)	NP_000212.1:n.*200A>G
NM_001166240.2:c.343-110T>C (CGREF1)	NP_001159712.1:n.343-110T>C
NM_001301324.2:c.*21-110T>C (CGREF1)	NP_001288253.1:n.*21-110T>C