Canonical Allele Identifier: CA367398633
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 435299
dbSNP Id: rs1554334579
gnomAD v4: 7-44145577-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145577G>T , CM000669.2:g.44145577G>T GRCh38
NC_000007.13:g.44185176G>T , CM000669.1:g.44185176G>T GRCh37
NC_000007.12:g.44151701G>T NCBI36
NG_008847.1:g.48847C>A
NG_008847.2:g.57594C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1171C>A ENSP00000379142.4:n.*1171C>A
ENST00000616242.5:c.*293C>A ENSP00000482149.2:n.*293C>A
ENST00000683378.1:n.399C>A
ENST00000336642.9:c.207C>A ENSP00000338009.5:p.Asn69Lys
ENST00000345378.7:c.1176C>A ENSP00000223366.2:p.Asn392Lys
ENST00000403799.8:c.1173C>A MANE Select ENSP00000384247.3:p.Asn391Lys
ENST00000671824.1:c.1236C>A ENSP00000500264.1:p.Asn412Lys
ENST00000672743.1:n.185C>A
ENST00000673284.1:c.1173C>A ENSP00000499852.1:p.Asn391Lys
ENST00000336642.8:c.225C>A ENSP00000338009.4:p.Asn75Lys
ENST00000345378.6:c.1176C>A ENSP00000223366.2:p.Asn392Lys
ENST00000395796.7:c.1170C>A ENSP00000379142.3:p.Asn390Lys
ENST00000403799.7:c.1173C>A ENSP00000384247.3:p.Asn391Lys
ENST00000437084.1:c.1122C>A ENSP00000402840.1:p.Asn374Lys
ENST00000459642.1:n.553C>A
ENST00000616242.4:c.1170C>A ENSP00000482149.1:p.Asn390Lys
NM_000162.3:c.1173C>A NP_000153.1:p.Asn391Lys
NM_033507.1:c.1176C>A NP_277042.1:p.Asn392Lys
NM_033508.1:c.1170C>A NP_277043.1:p.Asn390Lys
NM_000162.4:c.1173C>A NP_000153.1:p.Asn391Lys
NM_001354800.1:c.1173C>A NP_001341729.1:p.Asn391Lys
NM_001354801.1:c.162C>A NP_001341730.1:p.Asn54Lys
NM_001354802.1:c.33C>A NP_001341731.1:p.Asn11Lys
NM_001354803.1:c.207C>A NP_001341732.1:p.Asn69Lys
NM_033507.2:c.1176C>A NP_277042.1:p.Asn392Lys
NM_033508.2:c.1170C>A NP_277043.1:p.Asn390Lys
XM_024446707.1:c.33C>A XP_024302475.1:p.Asn11Lys
NM_000162.5:c.1173C>A MANE Select NP_000153.1:p.Asn391Lys
NM_033507.3:c.1176C>A NP_277042.1:p.Asn392Lys
NM_033508.3:c.1170C>A NP_277043.1:p.Asn390Lys
NM_001354803.2:c.207C>A NP_001341732.1:p.Asn69Lys