Canonical Allele Identifier: CA346166247

Gene: CGREF1 KHK

Linked Data

• dbSNP Id: rs776688675
• gnomAD v2: 2-27322667-C-G
• gnomAD v3: 2-27099799-C-G
• gnomAD v4: 2-27099799-C-G
• MyVariant Identifiers: chr2:g.27322667C>G (hg19) ; chr2:g.27099799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27099799C>G , CM000664.2:g.27099799C>G	GRCh38
NC_000002.11:g.27322667C>G , CM000664.1:g.27322667C>G	GRCh37
NC_000002.10:g.27176171C>G	NCBI36
NG_012199.1:g.18057C>G
NG_012199.2:g.18057C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.532G>C (CGREF1)
ENST00000260599.11:c.*49C>G (KHK)	ENSP00000260599.6:n.*49C>G
ENST00000429697.2:c.*49C>G (KHK)	ENSP00000404741.2:n.*49C>G
ENST00000260598.10:c.*49C>G (KHK) MANE Select	ENSP00000260598.5:n.*49C>G
ENST00000640154.1:c.324G>C (CGREF1)	ENSP00000491464.1:p.Met108Ile
ENST00000260598.9:c.*49C>G (KHK)	ENSP00000260598.5:n.*49C>G
ENST00000260599.10:c.*49C>G (KHK)	ENSP00000260599.6:n.*49C>G
ENST00000402550.5:c.384G>C (CGREF1)	ENSP00000385103.1:p.Met128Ile
ENST00000440612.5:c.*348G>C (CGREF1)	ENSP00000394306.1:n.*348G>C
ENST00000464371.1:n.872C>G (KHK)
ENST00000490823.5:n.1294C>G (KHK)
NM_000221.2:c.*49C>G (KHK)	NP_000212.1:n.*49C>G
NM_001166240.1:c.384G>C (CGREF1)	NP_001159712.1:p.Met128Ile
NM_001301324.1:c.*62G>C (CGREF1)	NP_001288253.1:n.*62G>C
NM_006488.2:c.*49C>G (KHK)	NP_006479.1:n.*49C>G
XM_005264294.2:c.*49C>G (KHK)	XP_005264351.1:n.*49C>G
XM_005264296.2:c.*49C>G (KHK)	XP_005264353.1:n.*49C>G
XM_005264298.2:c.*49C>G (KHK)	XP_005264355.1:n.*49C>G
XM_005264294.4:c.*49C>G (KHK)	XP_005264351.1:n.*49C>G
XM_005264296.4:c.*49C>G (KHK)	XP_005264353.1:n.*49C>G
XM_005264298.4:c.*49C>G (KHK)	XP_005264355.1:n.*49C>G
XM_017004060.2:c.*49C>G (KHK)	XP_016859549.1:n.*49C>G
XM_017004061.2:c.*49C>G (KHK)	XP_016859550.1:n.*49C>G
NM_006488.3:c.*49C>G (KHK) MANE Select	NP_006479.1:n.*49C>G
NM_000221.3:c.*49C>G (KHK)	NP_000212.1:n.*49C>G
NM_001166240.2:c.384G>C (CGREF1)	NP_001159712.1:p.Met128Ile
NM_001301324.2:c.*62G>C (CGREF1)	NP_001288253.1:n.*62G>C