Canonical Allele Identifier: CA454863047
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145658-G-A
MyVariant Identifiers: chr7:g.44185257G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145658G>A , CM000669.2:g.44145658G>A GRCh38
NC_000007.13:g.44185257G>A , CM000669.1:g.44185257G>A GRCh37
NC_000007.12:g.44151782G>A NCBI36
NG_008847.1:g.48766C>T
NG_008847.2:g.57513C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1090C>T ENSP00000379142.4:n.*1090C>T
ENST00000616242.5:c.*212C>T ENSP00000482149.2:n.*212C>T
ENST00000683378.1:n.318C>T
ENST00000336642.9:c.126C>T ENSP00000338009.5:p.Cys42=
ENST00000345378.7:c.1095C>T ENSP00000223366.2:p.Cys365=
ENST00000403799.8:c.1092C>T MANE Select ENSP00000384247.3:p.Cys364=
ENST00000671824.1:c.1155C>T ENSP00000500264.1:p.Cys385=
ENST00000672743.1:n.104C>T
ENST00000673284.1:c.1092C>T ENSP00000499852.1:p.Cys364=
ENST00000336642.8:c.144C>T ENSP00000338009.4:p.Cys48=
ENST00000345378.6:c.1095C>T ENSP00000223366.2:p.Cys365=
ENST00000395796.7:c.1089C>T ENSP00000379142.3:p.Cys363=
ENST00000403799.7:c.1092C>T ENSP00000384247.3:p.Cys364=
ENST00000437084.1:c.1041C>T ENSP00000402840.1:p.Cys347=
ENST00000459642.1:n.472C>T
ENST00000473353.1:n.390C>T
ENST00000616242.4:c.1089C>T ENSP00000482149.1:p.Cys363=
NM_000162.3:c.1092C>T NP_000153.1:p.Cys364=
NM_033507.1:c.1095C>T NP_277042.1:p.Cys365=
NM_033508.1:c.1089C>T NP_277043.1:p.Cys363=
NM_000162.4:c.1092C>T NP_000153.1:p.Cys364=
NM_001354800.1:c.1092C>T NP_001341729.1:p.Cys364=
NM_001354801.1:c.81C>T NP_001341730.1:p.Cys27=
NM_001354802.1:c.-49C>T NP_001341731.1:n.-49C>T
NM_001354803.1:c.126C>T NP_001341732.1:p.Cys42=
NM_033507.2:c.1095C>T NP_277042.1:p.Cys365=
NM_033508.2:c.1089C>T NP_277043.1:p.Cys363=
XM_024446707.1:c.-49C>T XP_024302475.1:n.-49C>T
NM_000162.5:c.1092C>T MANE Select NP_000153.1:p.Cys364=
NM_033507.3:c.1095C>T NP_277042.1:p.Cys365=
NM_033508.3:c.1089C>T NP_277043.1:p.Cys363=
NM_001354803.2:c.126C>T NP_001341732.1:p.Cys42=