Canonical Allele Identifier: CA367398628
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2581305
ClinVar RCV Id: RCV003331710
gnomAD v4: 7-44145576-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145576G>T , CM000669.2:g.44145576G>T GRCh38
NC_000007.13:g.44185175G>T , CM000669.1:g.44185175G>T GRCh37
NC_000007.12:g.44151700G>T NCBI36
NG_008847.1:g.48848C>A
NG_008847.2:g.57595C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1172C>A ENSP00000379142.4:n.*1172C>A
ENST00000616242.5:c.*294C>A ENSP00000482149.2:n.*294C>A
ENST00000683378.1:n.400C>A
ENST00000336642.9:c.208C>A ENSP00000338009.5:p.Arg70Ser
ENST00000345378.7:c.1177C>A ENSP00000223366.2:p.Arg393Ser
ENST00000403799.8:c.1174C>A MANE Select ENSP00000384247.3:p.Arg392Ser
ENST00000671824.1:c.1237C>A ENSP00000500264.1:p.Arg413Ser
ENST00000672743.1:n.186C>A
ENST00000673284.1:c.1174C>A ENSP00000499852.1:p.Arg392Ser
ENST00000336642.8:c.226C>A ENSP00000338009.4:p.Arg76Ser
ENST00000345378.6:c.1177C>A ENSP00000223366.2:p.Arg393Ser
ENST00000395796.7:c.1171C>A ENSP00000379142.3:p.Arg391Ser
ENST00000403799.7:c.1174C>A ENSP00000384247.3:p.Arg392Ser
ENST00000437084.1:c.1123C>A ENSP00000402840.1:p.Arg375Ser
ENST00000459642.1:n.554C>A
ENST00000616242.4:c.1171C>A ENSP00000482149.1:p.Arg391Ser
NM_000162.3:c.1174C>A NP_000153.1:p.Arg392Ser
NM_033507.1:c.1177C>A NP_277042.1:p.Arg393Ser
NM_033508.1:c.1171C>A NP_277043.1:p.Arg391Ser
NM_000162.4:c.1174C>A NP_000153.1:p.Arg392Ser
NM_001354800.1:c.1174C>A NP_001341729.1:p.Arg392Ser
NM_001354801.1:c.163C>A NP_001341730.1:p.Arg55Ser
NM_001354802.1:c.34C>A NP_001341731.1:p.Arg12Ser
NM_001354803.1:c.208C>A NP_001341732.1:p.Arg70Ser
NM_033507.2:c.1177C>A NP_277042.1:p.Arg393Ser
NM_033508.2:c.1171C>A NP_277043.1:p.Arg391Ser
XM_024446707.1:c.34C>A XP_024302475.1:p.Arg12Ser
NM_000162.5:c.1174C>A MANE Select NP_000153.1:p.Arg392Ser
NM_033507.3:c.1177C>A NP_277042.1:p.Arg393Ser
NM_033508.3:c.1171C>A NP_277043.1:p.Arg391Ser
NM_001354803.2:c.208C>A NP_001341732.1:p.Arg70Ser