Canonical Allele Identifier: CA367397290
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1763107
ClinVar RCV Id: RCV002434767

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145274C>A , CM000669.2:g.44145274C>A GRCh38
NC_000007.13:g.44184873C>A , CM000669.1:g.44184873C>A GRCh37
NC_000007.12:g.44151398C>A NCBI36
NG_008847.1:g.49150G>T
NG_008847.2:g.57897G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1258G>T ENSP00000379142.4:n.*1258G>T
ENST00000616242.5:c.*380G>T ENSP00000482149.2:n.*380G>T
ENST00000683378.1:n.486G>T
ENST00000336642.9:c.294G>T ENSP00000338009.5:p.Lys98Asn
ENST00000345378.7:c.1263G>T ENSP00000223366.2:p.Lys421Asn
ENST00000403799.8:c.1260G>T MANE Select ENSP00000384247.3:p.Lys420Asn
ENST00000671824.1:c.1323G>T ENSP00000500264.1:p.Lys441Asn
ENST00000672743.1:n.272G>T
ENST00000673284.1:c.1260G>T ENSP00000499852.1:p.Lys420Asn
ENST00000336642.8:c.312G>T ENSP00000338009.4:p.Lys104Asn
ENST00000345378.6:c.1263G>T ENSP00000223366.2:p.Lys421Asn
ENST00000395796.7:c.1257G>T ENSP00000379142.3:p.Lys419Asn
ENST00000403799.7:c.1260G>T ENSP00000384247.3:p.Lys420Asn
ENST00000437084.1:c.1209G>T ENSP00000402840.1:p.Lys403Asn
ENST00000459642.1:n.640G>T
ENST00000616242.4:c.1257G>T ENSP00000482149.1:p.Lys419Asn
NM_000162.3:c.1260G>T NP_000153.1:p.Lys420Asn
NM_033507.1:c.1263G>T NP_277042.1:p.Lys421Asn
NM_033508.1:c.1257G>T NP_277043.1:p.Lys419Asn
NM_000162.4:c.1260G>T NP_000153.1:p.Lys420Asn
NM_001354800.1:c.1260G>T NP_001341729.1:p.Lys420Asn
NM_001354801.1:c.249G>T NP_001341730.1:p.Lys83Asn
NM_001354802.1:c.120G>T NP_001341731.1:p.Lys40Asn
NM_001354803.1:c.294G>T NP_001341732.1:p.Lys98Asn
NM_033507.2:c.1263G>T NP_277042.1:p.Lys421Asn
NM_033508.2:c.1257G>T NP_277043.1:p.Lys419Asn
XM_024446707.1:c.120G>T XP_024302475.1:p.Lys40Asn
NM_000162.5:c.1260G>T MANE Select NP_000153.1:p.Lys420Asn
NM_033507.3:c.1263G>T NP_277042.1:p.Lys421Asn
NM_033508.3:c.1257G>T NP_277043.1:p.Lys419Asn
NM_001354803.2:c.294G>T NP_001341732.1:p.Lys98Asn