Canonical Allele Identifier: CA454863255
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1257461820
gnomAD v2: 7-44185218-G-A
MyVariant Identifiers: chr7:g.44185218G>A (hg19) chr7:g.44145619G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145619G>A , CM000669.2:g.44145619G>A GRCh38
NC_000007.13:g.44185218G>A , CM000669.1:g.44185218G>A GRCh37
NC_000007.12:g.44151743G>A NCBI36
NG_008847.1:g.48805C>T
NG_008847.2:g.57552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1129C>T ENSP00000379142.4:n.*1129C>T
ENST00000616242.5:c.*251C>T ENSP00000482149.2:n.*251C>T
ENST00000683378.1:n.357C>T
ENST00000336642.9:c.165C>T ENSP00000338009.5:p.Arg55=
ENST00000345378.7:c.1134C>T ENSP00000223366.2:p.Arg378=
ENST00000403799.8:c.1131C>T MANE Select ENSP00000384247.3:p.Arg377=
ENST00000671824.1:c.1194C>T ENSP00000500264.1:p.Arg398=
ENST00000672743.1:n.143C>T
ENST00000673284.1:c.1131C>T ENSP00000499852.1:p.Arg377=
ENST00000336642.8:c.183C>T ENSP00000338009.4:p.Arg61=
ENST00000345378.6:c.1134C>T ENSP00000223366.2:p.Arg378=
ENST00000395796.7:c.1128C>T ENSP00000379142.3:p.Arg376=
ENST00000403799.7:c.1131C>T ENSP00000384247.3:p.Arg377=
ENST00000437084.1:c.1080C>T ENSP00000402840.1:p.Arg360=
ENST00000459642.1:n.511C>T
ENST00000616242.4:c.1128C>T ENSP00000482149.1:p.Arg376=
NM_000162.3:c.1131C>T NP_000153.1:p.Arg377=
NM_033507.1:c.1134C>T NP_277042.1:p.Arg378=
NM_033508.1:c.1128C>T NP_277043.1:p.Arg376=
NM_000162.4:c.1131C>T NP_000153.1:p.Arg377=
NM_001354800.1:c.1131C>T NP_001341729.1:p.Arg377=
NM_001354801.1:c.120C>T NP_001341730.1:p.Arg40=
NM_001354802.1:c.-10C>T NP_001341731.1:n.-10C>T
NM_001354803.1:c.165C>T NP_001341732.1:p.Arg55=
NM_033507.2:c.1134C>T NP_277042.1:p.Arg378=
NM_033508.2:c.1128C>T NP_277043.1:p.Arg376=
XM_024446707.1:c.-10C>T XP_024302475.1:n.-10C>T
NM_000162.5:c.1131C>T MANE Select NP_000153.1:p.Arg377=
NM_033507.3:c.1134C>T NP_277042.1:p.Arg378=
NM_033508.3:c.1128C>T NP_277043.1:p.Arg376=
NM_001354803.2:c.165C>T NP_001341732.1:p.Arg55=
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