Canonical Allele Identifier: CA1569533

Gene: CGREF1 KHK

Linked Data

• ClinVar Variation Id: 335518
• ClinVar RCV Id: RCV000300128
• dbSNP Id: rs543665606
• ExAC: 2:27323428 A / C
• gnomAD v2: 2-27323428-A-C
• gnomAD v3: 2-27100560-A-C
• gnomAD v4: 2-27100560-A-C
• MyVariant Identifiers: chr2:g.27323428A>C (hg19) ; chr2:g.27100560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27100560A>C , CM000664.2:g.27100560A>C	GRCh38
NC_000002.11:g.27323428A>C , CM000664.1:g.27323428A>C	GRCh37
NC_000002.10:g.27176932A>C	NCBI36
NG_012199.1:g.18818A>C
NG_012199.2:g.18818A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.364-18T>G (CGREF1)
ENST00000260599.11:c.*810A>C (KHK)	ENSP00000260599.6:n.*810A>C
ENST00000260598.10:c.*810A>C (KHK) MANE Select	ENSP00000260598.5:n.*810A>C
ENST00000640154.1:c.156-18T>G (CGREF1)	ENSP00000491464.1:n.156-18T>G
ENST00000260598.9:c.*810A>C (KHK)	ENSP00000260598.5:n.*810A>C
ENST00000260599.10:c.*810A>C (KHK)	ENSP00000260599.6:n.*810A>C
ENST00000402550.5:c.343-720T>G (CGREF1)	ENSP00000385103.1:n.343-720T>G
ENST00000440612.5:c.*180-18T>G (CGREF1)	ENSP00000394306.1:n.*180-18T>G
NM_000221.2:c.*810A>C (KHK)	NP_000212.1:n.*810A>C
NM_001166240.1:c.343-720T>G (CGREF1)	NP_001159712.1:n.343-720T>G
NM_001301324.1:c.287-18T>G (CGREF1)	NP_001288253.1:n.287-18T>G
NM_006488.2:c.*810A>C (KHK)	NP_006479.1:n.*810A>C
XM_005264298.2:c.*810A>C (KHK)	XP_005264355.1:n.*810A>C
XM_005264294.4:c.*810A>C (KHK)	XP_005264351.1:n.*810A>C
XM_005264296.4:c.*810A>C (KHK)	XP_005264353.1:n.*810A>C
XM_005264298.4:c.*810A>C (KHK)	XP_005264355.1:n.*810A>C
XM_017004060.2:c.*810A>C (KHK)	XP_016859549.1:n.*810A>C
XM_017004061.2:c.*810A>C (KHK)	XP_016859550.1:n.*810A>C
NM_006488.3:c.*810A>C (KHK) MANE Select	NP_006479.1:n.*810A>C
NM_000221.3:c.*810A>C (KHK)	NP_000212.1:n.*810A>C
NM_001166240.2:c.343-720T>G (CGREF1)	NP_001159712.1:n.343-720T>G
NM_001301324.2:c.287-18T>G (CGREF1)	NP_001288253.1:n.287-18T>G