Canonical Allele Identifier: CA454863190
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145574-G-A
MyVariant Identifiers: chr7:g.44185173G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145574G>A , CM000669.2:g.44145574G>A GRCh38
NC_000007.13:g.44185173G>A , CM000669.1:g.44185173G>A GRCh37
NC_000007.12:g.44151698G>A NCBI36
NG_008847.1:g.48850C>T
NG_008847.2:g.57597C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1174C>T ENSP00000379142.4:n.*1174C>T
ENST00000616242.5:c.*296C>T ENSP00000482149.2:n.*296C>T
ENST00000683378.1:n.402C>T
ENST00000336642.9:c.210C>T ENSP00000338009.5:p.Arg70=
ENST00000345378.7:c.1179C>T ENSP00000223366.2:p.Arg393=
ENST00000403799.8:c.1176C>T MANE Select ENSP00000384247.3:p.Arg392=
ENST00000671824.1:c.1239C>T ENSP00000500264.1:p.Arg413=
ENST00000672743.1:n.188C>T
ENST00000673284.1:c.1176C>T ENSP00000499852.1:p.Arg392=
ENST00000336642.8:c.228C>T ENSP00000338009.4:p.Arg76=
ENST00000345378.6:c.1179C>T ENSP00000223366.2:p.Arg393=
ENST00000395796.7:c.1173C>T ENSP00000379142.3:p.Arg391=
ENST00000403799.7:c.1176C>T ENSP00000384247.3:p.Arg392=
ENST00000437084.1:c.1125C>T ENSP00000402840.1:p.Arg375=
ENST00000459642.1:n.556C>T
ENST00000616242.4:c.1173C>T ENSP00000482149.1:p.Arg391=
NM_000162.3:c.1176C>T NP_000153.1:p.Arg392=
NM_033507.1:c.1179C>T NP_277042.1:p.Arg393=
NM_033508.1:c.1173C>T NP_277043.1:p.Arg391=
NM_000162.4:c.1176C>T NP_000153.1:p.Arg392=
NM_001354800.1:c.1176C>T NP_001341729.1:p.Arg392=
NM_001354801.1:c.165C>T NP_001341730.1:p.Arg55=
NM_001354802.1:c.36C>T NP_001341731.1:p.Arg12=
NM_001354803.1:c.210C>T NP_001341732.1:p.Arg70=
NM_033507.2:c.1179C>T NP_277042.1:p.Arg393=
NM_033508.2:c.1173C>T NP_277043.1:p.Arg391=
XM_024446707.1:c.36C>T XP_024302475.1:p.Arg12=
NM_000162.5:c.1176C>T MANE Select NP_000153.1:p.Arg392=
NM_033507.3:c.1179C>T NP_277042.1:p.Arg393=
NM_033508.3:c.1173C>T NP_277043.1:p.Arg391=
NM_001354803.2:c.210C>T NP_001341732.1:p.Arg70=