Canonical Allele Identifier: CA425382806

Gene: KHK

Linked Data

• dbSNP Id: rs1418153355
• gnomAD v2: 2-27315233-C-T
• gnomAD v3: 2-27092365-C-T
• gnomAD v4: 2-27092365-C-T
• MyVariant Identifiers: chr2:g.27315233C>T (hg19) ; chr2:g.27092365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27092365C>T , CM000664.2:g.27092365C>T	GRCh38
NC_000002.11:g.27315233C>T , CM000664.1:g.27315233C>T	GRCh37
NC_000002.10:g.27168737C>T	NCBI36
NG_012199.1:g.10623C>T
NG_012199.2:g.10623C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260599.11:c.126C>T	ENSP00000260599.6:p.Asn42=
ENST00000429697.2:c.126C>T	ENSP00000404741.2:p.Asn42=
ENST00000260598.10:c.126C>T MANE Select	ENSP00000260598.5:p.Asn42=
ENST00000260598.9:c.126C>T	ENSP00000260598.5:p.Asn42=
ENST00000260599.10:c.126C>T	ENSP00000260599.6:p.Asn42=
ENST00000429697.1:c.126C>T	ENSP00000404741.1:p.Asn42=
ENST00000490823.5:n.474C>T
NM_000221.2:c.126C>T	NP_000212.1:p.Asn42=
NM_006488.2:c.126C>T	NP_006479.1:p.Asn42=
XM_005264294.2:c.126C>T	XP_005264351.1:p.Asn42=
XM_005264296.2:c.126C>T	XP_005264353.1:p.Asn42=
XM_005264298.2:c.93-4364C>T	XP_005264355.1:n.93-4364C>T
XM_006712008.2:c.126C>T	XP_006712071.1:p.Asn42=
XM_006712009.2:c.126C>T	XP_006712072.1:p.Asn42=
XM_006712010.2:c.126C>T	XP_006712073.1:p.Asn42=
XM_006712011.2:c.126C>T	XP_006712074.1:p.Asn42=
XM_006712012.2:c.126C>T	XP_006712075.1:p.Asn42=
XM_006712013.2:c.126C>T	XP_006712076.1:p.Asn42=
XM_006712014.2:c.93-4364C>T	XP_006712077.1:n.93-4364C>T
XM_005264294.4:c.126C>T	XP_005264351.1:p.Asn42=
XM_005264296.4:c.126C>T	XP_005264353.1:p.Asn42=
XM_005264298.4:c.93-4364C>T	XP_005264355.1:n.93-4364C>T
XM_006712008.4:c.126C>T	XP_006712071.1:p.Asn42=
XM_006712009.4:c.126C>T	XP_006712072.1:p.Asn42=
XM_006712010.4:c.126C>T	XP_006712073.1:p.Asn42=
XM_006712011.4:c.126C>T	XP_006712074.1:p.Asn42=
XM_006712012.4:c.126C>T	XP_006712075.1:p.Asn42=
XM_006712013.4:c.126C>T	XP_006712076.1:p.Asn42=
XM_006712014.4:c.93-4364C>T	XP_006712077.1:n.93-4364C>T
XM_017004060.2:c.126C>T	XP_016859549.1:p.Asn42=
XM_017004061.2:c.126C>T	XP_016859550.1:p.Asn42=
NM_006488.3:c.126C>T MANE Select	NP_006479.1:p.Asn42=
NM_000221.3:c.126C>T	NP_000212.1:p.Asn42=