Canonical Allele Identifier: CA454863199
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145580-G-T
MyVariant Identifiers: chr7:g.44185179G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145580G>T , CM000669.2:g.44145580G>T GRCh38
NC_000007.13:g.44185179G>T , CM000669.1:g.44185179G>T GRCh37
NC_000007.12:g.44151704G>T NCBI36
NG_008847.1:g.48844C>A
NG_008847.2:g.57591C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1168C>A ENSP00000379142.4:n.*1168C>A
ENST00000616242.5:c.*290C>A ENSP00000482149.2:n.*290C>A
ENST00000683378.1:n.396C>A
ENST00000336642.9:c.204C>A ENSP00000338009.5:p.Ile68=
ENST00000345378.7:c.1173C>A ENSP00000223366.2:p.Ile391=
ENST00000403799.8:c.1170C>A MANE Select ENSP00000384247.3:p.Ile390=
ENST00000671824.1:c.1233C>A ENSP00000500264.1:p.Ile411=
ENST00000672743.1:n.182C>A
ENST00000673284.1:c.1170C>A ENSP00000499852.1:p.Ile390=
ENST00000336642.8:c.222C>A ENSP00000338009.4:p.Ile74=
ENST00000345378.6:c.1173C>A ENSP00000223366.2:p.Ile391=
ENST00000395796.7:c.1167C>A ENSP00000379142.3:p.Ile389=
ENST00000403799.7:c.1170C>A ENSP00000384247.3:p.Ile390=
ENST00000437084.1:c.1119C>A ENSP00000402840.1:p.Ile373=
ENST00000459642.1:n.550C>A
ENST00000616242.4:c.1167C>A ENSP00000482149.1:p.Ile389=
NM_000162.3:c.1170C>A NP_000153.1:p.Ile390=
NM_033507.1:c.1173C>A NP_277042.1:p.Ile391=
NM_033508.1:c.1167C>A NP_277043.1:p.Ile389=
NM_000162.4:c.1170C>A NP_000153.1:p.Ile390=
NM_001354800.1:c.1170C>A NP_001341729.1:p.Ile390=
NM_001354801.1:c.159C>A NP_001341730.1:p.Ile53=
NM_001354802.1:c.30C>A NP_001341731.1:p.Ile10=
NM_001354803.1:c.204C>A NP_001341732.1:p.Ile68=
NM_033507.2:c.1173C>A NP_277042.1:p.Ile391=
NM_033508.2:c.1167C>A NP_277043.1:p.Ile389=
XM_024446707.1:c.30C>A XP_024302475.1:p.Ile10=
NM_000162.5:c.1170C>A MANE Select NP_000153.1:p.Ile390=
NM_033507.3:c.1173C>A NP_277042.1:p.Ile391=
NM_033508.3:c.1167C>A NP_277043.1:p.Ile389=
NM_001354803.2:c.204C>A NP_001341732.1:p.Ile68=
Search 100 bp 5'
Search 100 bp 3'