Canonical Allele Identifier: CA367398826
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585908
dbSNP Id: rs1471992838
gnomAD v2: 7-44185220-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145621G>A , CM000669.2:g.44145621G>A GRCh38
NC_000007.13:g.44185220G>A , CM000669.1:g.44185220G>A GRCh37
NC_000007.12:g.44151745G>A NCBI36
NG_008847.1:g.48803C>T
NG_008847.2:g.57550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1127C>T ENSP00000379142.4:n.*1127C>T
ENST00000616242.5:c.*249C>T ENSP00000482149.2:n.*249C>T
ENST00000683378.1:n.355C>T
ENST00000336642.9:c.163C>T ENSP00000338009.5:p.Arg55Cys
ENST00000345378.7:c.1132C>T ENSP00000223366.2:p.Arg378Cys
ENST00000403799.8:c.1129C>T MANE Select ENSP00000384247.3:p.Arg377Cys
ENST00000671824.1:c.1192C>T ENSP00000500264.1:p.Arg398Cys
ENST00000672743.1:n.141C>T
ENST00000673284.1:c.1129C>T ENSP00000499852.1:p.Arg377Cys
ENST00000336642.8:c.181C>T ENSP00000338009.4:p.Arg61Cys
ENST00000345378.6:c.1132C>T ENSP00000223366.2:p.Arg378Cys
ENST00000395796.7:c.1126C>T ENSP00000379142.3:p.Arg376Cys
ENST00000403799.7:c.1129C>T ENSP00000384247.3:p.Arg377Cys
ENST00000437084.1:c.1078C>T ENSP00000402840.1:p.Arg360Cys
ENST00000459642.1:n.509C>T
ENST00000616242.4:c.1126C>T ENSP00000482149.1:p.Arg376Cys
NM_000162.3:c.1129C>T NP_000153.1:p.Arg377Cys
NM_033507.1:c.1132C>T NP_277042.1:p.Arg378Cys
NM_033508.1:c.1126C>T NP_277043.1:p.Arg376Cys
NM_000162.4:c.1129C>T NP_000153.1:p.Arg377Cys
NM_001354800.1:c.1129C>T NP_001341729.1:p.Arg377Cys
NM_001354801.1:c.118C>T NP_001341730.1:p.Arg40Cys
NM_001354802.1:c.-12C>T NP_001341731.1:n.-12C>T
NM_001354803.1:c.163C>T NP_001341732.1:p.Arg55Cys
NM_033507.2:c.1132C>T NP_277042.1:p.Arg378Cys
NM_033508.2:c.1126C>T NP_277043.1:p.Arg376Cys
XM_024446707.1:c.-12C>T XP_024302475.1:n.-12C>T
NM_000162.5:c.1129C>T MANE Select NP_000153.1:p.Arg377Cys
NM_033507.3:c.1132C>T NP_277042.1:p.Arg378Cys
NM_033508.3:c.1126C>T NP_277043.1:p.Arg376Cys
NM_001354803.2:c.163C>T NP_001341732.1:p.Arg55Cys