Canonical Allele Identifier: CA454863075
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145685-C-G
MyVariant Identifiers: chr7:g.44185284C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145685C>G , CM000669.2:g.44145685C>G GRCh38
NC_000007.13:g.44185284C>G , CM000669.1:g.44185284C>G GRCh37
NC_000007.12:g.44151809C>G NCBI36
NG_008847.1:g.48739G>C
NG_008847.2:g.57486G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1063G>C ENSP00000379142.4:n.*1063G>C
ENST00000616242.5:c.*185G>C ENSP00000482149.2:n.*185G>C
ENST00000683378.1:n.291G>C
ENST00000336642.9:c.99G>C ENSP00000338009.5:p.Leu33=
ENST00000345378.7:c.1068G>C ENSP00000223366.2:p.Leu356=
ENST00000403799.8:c.1065G>C MANE Select ENSP00000384247.3:p.Leu355=
ENST00000671824.1:c.1128G>C ENSP00000500264.1:p.Leu376=
ENST00000672743.1:n.77G>C
ENST00000673284.1:c.1065G>C ENSP00000499852.1:p.Leu355=
ENST00000336642.8:c.117G>C ENSP00000338009.4:p.Leu39=
ENST00000345378.6:c.1068G>C ENSP00000223366.2:p.Leu356=
ENST00000395796.7:c.1062G>C ENSP00000379142.3:p.Leu354=
ENST00000403799.7:c.1065G>C ENSP00000384247.3:p.Leu355=
ENST00000437084.1:c.1014G>C ENSP00000402840.1:p.Leu338=
ENST00000459642.1:n.445G>C
ENST00000473353.1:n.363G>C
ENST00000616242.4:c.1062G>C ENSP00000482149.1:p.Leu354=
NM_000162.3:c.1065G>C NP_000153.1:p.Leu355=
NM_033507.1:c.1068G>C NP_277042.1:p.Leu356=
NM_033508.1:c.1062G>C NP_277043.1:p.Leu354=
NM_000162.4:c.1065G>C NP_000153.1:p.Leu355=
NM_001354800.1:c.1065G>C NP_001341729.1:p.Leu355=
NM_001354801.1:c.54G>C NP_001341730.1:p.Leu18=
NM_001354802.1:c.-76G>C NP_001341731.1:n.-76G>C
NM_001354803.1:c.99G>C NP_001341732.1:p.Leu33=
NM_033507.2:c.1068G>C NP_277042.1:p.Leu356=
NM_033508.2:c.1062G>C NP_277043.1:p.Leu354=
XM_024446707.1:c.-76G>C XP_024302475.1:n.-76G>C
NM_000162.5:c.1065G>C MANE Select NP_000153.1:p.Leu355=
NM_033507.3:c.1068G>C NP_277042.1:p.Leu356=
NM_033508.3:c.1062G>C NP_277043.1:p.Leu354=
NM_001354803.2:c.99G>C NP_001341732.1:p.Leu33=