Canonical Allele Identifier: CA454863234
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145601-C-A
MyVariant Identifiers: chr7:g.44185200C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145601C>A , CM000669.2:g.44145601C>A GRCh38
NC_000007.13:g.44185200C>A , CM000669.1:g.44185200C>A GRCh37
NC_000007.12:g.44151725C>A NCBI36
NG_008847.1:g.48823G>T
NG_008847.2:g.57570G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1147G>T ENSP00000379142.4:n.*1147G>T
ENST00000616242.5:c.*269G>T ENSP00000482149.2:n.*269G>T
ENST00000683378.1:n.375G>T
ENST00000336642.9:c.183G>T ENSP00000338009.5:p.Ser61=
ENST00000345378.7:c.1152G>T ENSP00000223366.2:p.Ser384=
ENST00000403799.8:c.1149G>T MANE Select ENSP00000384247.3:p.Ser383=
ENST00000671824.1:c.1212G>T ENSP00000500264.1:p.Ser404=
ENST00000672743.1:n.161G>T
ENST00000673284.1:c.1149G>T ENSP00000499852.1:p.Ser383=
ENST00000336642.8:c.201G>T ENSP00000338009.4:p.Ser67=
ENST00000345378.6:c.1152G>T ENSP00000223366.2:p.Ser384=
ENST00000395796.7:c.1146G>T ENSP00000379142.3:p.Ser382=
ENST00000403799.7:c.1149G>T ENSP00000384247.3:p.Ser383=
ENST00000437084.1:c.1098G>T ENSP00000402840.1:p.Ser366=
ENST00000459642.1:n.529G>T
ENST00000616242.4:c.1146G>T ENSP00000482149.1:p.Ser382=
NM_000162.3:c.1149G>T NP_000153.1:p.Ser383=
NM_033507.1:c.1152G>T NP_277042.1:p.Ser384=
NM_033508.1:c.1146G>T NP_277043.1:p.Ser382=
NM_000162.4:c.1149G>T NP_000153.1:p.Ser383=
NM_001354800.1:c.1149G>T NP_001341729.1:p.Ser383=
NM_001354801.1:c.138G>T NP_001341730.1:p.Ser46=
NM_001354802.1:c.9G>T NP_001341731.1:p.Ser3=
NM_001354803.1:c.183G>T NP_001341732.1:p.Ser61=
NM_033507.2:c.1152G>T NP_277042.1:p.Ser384=
NM_033508.2:c.1146G>T NP_277043.1:p.Ser382=
XM_024446707.1:c.9G>T XP_024302475.1:p.Ser3=
NM_000162.5:c.1149G>T MANE Select NP_000153.1:p.Ser383=
NM_033507.3:c.1152G>T NP_277042.1:p.Ser384=
NM_033508.3:c.1146G>T NP_277043.1:p.Ser382=
NM_001354803.2:c.183G>T NP_001341732.1:p.Ser61=
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