Canonical Allele Identifier: CA454863131
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145730-G-A
MyVariant Identifiers: chr7:g.44185329G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145730G>A , CM000669.2:g.44145730G>A GRCh38
NC_000007.13:g.44185329G>A , CM000669.1:g.44185329G>A GRCh37
NC_000007.12:g.44151854G>A NCBI36
NG_008847.1:g.48694C>T
NG_008847.2:g.57441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1018C>T ENSP00000379142.4:n.*1018C>T
ENST00000616242.5:c.*140C>T ENSP00000482149.2:n.*140C>T
ENST00000683378.1:n.246C>T
ENST00000336642.9:c.54C>T ENSP00000338009.5:p.Pro18=
ENST00000345378.7:c.1023C>T ENSP00000223366.2:p.Ser341=
ENST00000403799.8:c.1020C>T MANE Select ENSP00000384247.3:p.Ser340=
ENST00000671824.1:c.1083C>T ENSP00000500264.1:p.Ser361=
ENST00000672743.1:n.32C>T
ENST00000673284.1:c.1020C>T ENSP00000499852.1:p.Ser340=
ENST00000336642.8:c.72C>T ENSP00000338009.4:p.Pro24=
ENST00000345378.6:c.1023C>T ENSP00000223366.2:p.Ser341=
ENST00000395796.7:c.1017C>T ENSP00000379142.3:p.Ser339=
ENST00000403799.7:c.1020C>T ENSP00000384247.3:p.Ser340=
ENST00000437084.1:c.969C>T ENSP00000402840.1:p.Ser323=
ENST00000459642.1:n.400C>T
ENST00000473353.1:n.318C>T
ENST00000616242.4:c.1017C>T ENSP00000482149.1:p.Ser339=
NM_000162.3:c.1020C>T NP_000153.1:p.Ser340=
NM_033507.1:c.1023C>T NP_277042.1:p.Ser341=
NM_033508.1:c.1017C>T NP_277043.1:p.Ser339=
NM_000162.4:c.1020C>T NP_000153.1:p.Ser340=
NM_001354800.1:c.1020C>T NP_001341729.1:p.Ser340=
NM_001354801.1:c.9C>T NP_001341730.1:p.Ser3=
NM_001354802.1:c.-121C>T NP_001341731.1:n.-121C>T
NM_001354803.1:c.54C>T NP_001341732.1:p.Pro18=
NM_033507.2:c.1023C>T NP_277042.1:p.Ser341=
NM_033508.2:c.1017C>T NP_277043.1:p.Ser339=
XM_024446707.1:c.-121C>T XP_024302475.1:n.-121C>T
NM_000162.5:c.1020C>T MANE Select NP_000153.1:p.Ser340=
NM_033507.3:c.1023C>T NP_277042.1:p.Ser341=
NM_033508.3:c.1017C>T NP_277043.1:p.Ser339=
NM_001354803.2:c.54C>T NP_001341732.1:p.Pro18=