Canonical Allele Identifier: CA454863096
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145697-G-T
MyVariant Identifiers: chr7:g.44185296G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145697G>T , CM000669.2:g.44145697G>T GRCh38
NC_000007.13:g.44185296G>T , CM000669.1:g.44185296G>T GRCh37
NC_000007.12:g.44151821G>T NCBI36
NG_008847.1:g.48727C>A
NG_008847.2:g.57474C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1051C>A ENSP00000379142.4:n.*1051C>A
ENST00000616242.5:c.*173C>A ENSP00000482149.2:n.*173C>A
ENST00000683378.1:n.279C>A
ENST00000336642.9:c.87C>A ENSP00000338009.5:p.Ile29=
ENST00000345378.7:c.1056C>A ENSP00000223366.2:p.Ile352=
ENST00000403799.8:c.1053C>A MANE Select ENSP00000384247.3:p.Ile351=
ENST00000671824.1:c.1116C>A ENSP00000500264.1:p.Ile372=
ENST00000672743.1:n.65C>A
ENST00000673284.1:c.1053C>A ENSP00000499852.1:p.Ile351=
ENST00000336642.8:c.105C>A ENSP00000338009.4:p.Ile35=
ENST00000345378.6:c.1056C>A ENSP00000223366.2:p.Ile352=
ENST00000395796.7:c.1050C>A ENSP00000379142.3:p.Ile350=
ENST00000403799.7:c.1053C>A ENSP00000384247.3:p.Ile351=
ENST00000437084.1:c.1002C>A ENSP00000402840.1:p.Ile334=
ENST00000459642.1:n.433C>A
ENST00000473353.1:n.351C>A
ENST00000616242.4:c.1050C>A ENSP00000482149.1:p.Ile350=
NM_000162.3:c.1053C>A NP_000153.1:p.Ile351=
NM_033507.1:c.1056C>A NP_277042.1:p.Ile352=
NM_033508.1:c.1050C>A NP_277043.1:p.Ile350=
NM_000162.4:c.1053C>A NP_000153.1:p.Ile351=
NM_001354800.1:c.1053C>A NP_001341729.1:p.Ile351=
NM_001354801.1:c.42C>A NP_001341730.1:p.Ile14=
NM_001354802.1:c.-88C>A NP_001341731.1:n.-88C>A
NM_001354803.1:c.87C>A NP_001341732.1:p.Ile29=
NM_033507.2:c.1056C>A NP_277042.1:p.Ile352=
NM_033508.2:c.1050C>A NP_277043.1:p.Ile350=
XM_024446707.1:c.-88C>A XP_024302475.1:n.-88C>A
NM_000162.5:c.1053C>A MANE Select NP_000153.1:p.Ile351=
NM_033507.3:c.1056C>A NP_277042.1:p.Ile352=
NM_033508.3:c.1050C>A NP_277043.1:p.Ile350=
NM_001354803.2:c.87C>A NP_001341732.1:p.Ile29=