Canonical Allele Identifier: CA10613062

Gene: CGREF1 KHK

Linked Data

• ClinVar Variation Id: 335510
• ClinVar RCV Id: RCV000344603
• dbSNP Id: rs187387157
• gnomAD v2: 2-27323087-G-A
• gnomAD v3: 2-27100219-G-A
• gnomAD v4: 2-27100219-G-A
• MyVariant Identifiers: chr2:g.27323087G>A (hg19) ; chr2:g.27100219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27100219G>A , CM000664.2:g.27100219G>A	GRCh38
NC_000002.11:g.27323087G>A , CM000664.1:g.27323087G>A	GRCh37
NC_000002.10:g.27176591G>A	NCBI36
NG_012199.1:g.18477G>A
NG_012199.2:g.18477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.490+197C>T (CGREF1)
ENST00000260599.11:c.*469G>A (KHK)	ENSP00000260599.6:n.*469G>A
ENST00000260598.10:c.*469G>A (KHK) MANE Select	ENSP00000260598.5:n.*469G>A
ENST00000640154.1:c.282+197C>T (CGREF1)	ENSP00000491464.1:n.282+197C>T
ENST00000260598.9:c.*469G>A (KHK)	ENSP00000260598.5:n.*469G>A
ENST00000260599.10:c.*469G>A (KHK)	ENSP00000260599.6:n.*469G>A
ENST00000402550.5:c.343-379C>T (CGREF1)	ENSP00000385103.1:n.343-379C>T
ENST00000440612.5:c.*306+197C>T (CGREF1)	ENSP00000394306.1:n.*306+197C>T
NM_000221.2:c.*469G>A (KHK)	NP_000212.1:n.*469G>A
NM_001166240.1:c.343-379C>T (CGREF1)	NP_001159712.1:n.343-379C>T
NM_001301324.1:c.*20+197C>T (CGREF1)	NP_001288253.1:n.*20+197C>T
NM_006488.2:c.*469G>A (KHK)	NP_006479.1:n.*469G>A
XM_005264298.2:c.*469G>A (KHK)	XP_005264355.1:n.*469G>A
XM_005264294.4:c.*469G>A (KHK)	XP_005264351.1:n.*469G>A
XM_005264296.4:c.*469G>A (KHK)	XP_005264353.1:n.*469G>A
XM_005264298.4:c.*469G>A (KHK)	XP_005264355.1:n.*469G>A
XM_017004060.2:c.*469G>A (KHK)	XP_016859549.1:n.*469G>A
XM_017004061.2:c.*469G>A (KHK)	XP_016859550.1:n.*469G>A
NM_006488.3:c.*469G>A (KHK) MANE Select	NP_006479.1:n.*469G>A
NM_000221.3:c.*469G>A (KHK)	NP_000212.1:n.*469G>A
NM_001166240.2:c.343-379C>T (CGREF1)	NP_001159712.1:n.343-379C>T
NM_001301324.2:c.*20+197C>T (CGREF1)	NP_001288253.1:n.*20+197C>T