Canonical Allele Identifier: CA454863176
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145562-G-A
MyVariant Identifiers: chr7:g.44185161G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145562G>A , CM000669.2:g.44145562G>A GRCh38
NC_000007.13:g.44185161G>A , CM000669.1:g.44185161G>A GRCh37
NC_000007.12:g.44151686G>A NCBI36
NG_008847.1:g.48862C>T
NG_008847.2:g.57609C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1186C>T ENSP00000379142.4:n.*1186C>T
ENST00000616242.5:c.*308C>T ENSP00000482149.2:n.*308C>T
ENST00000683378.1:n.414C>T
ENST00000336642.9:c.222C>T ENSP00000338009.5:p.Ser74=
ENST00000345378.7:c.1191C>T ENSP00000223366.2:p.Ser397=
ENST00000403799.8:c.1188C>T MANE Select ENSP00000384247.3:p.Ser396=
ENST00000671824.1:c.1251C>T ENSP00000500264.1:p.Ser417=
ENST00000672743.1:n.200C>T
ENST00000673284.1:c.1188C>T ENSP00000499852.1:p.Ser396=
ENST00000336642.8:c.240C>T ENSP00000338009.4:p.Ser80=
ENST00000345378.6:c.1191C>T ENSP00000223366.2:p.Ser397=
ENST00000395796.7:c.1185C>T ENSP00000379142.3:p.Ser395=
ENST00000403799.7:c.1188C>T ENSP00000384247.3:p.Ser396=
ENST00000437084.1:c.1137C>T ENSP00000402840.1:p.Ser379=
ENST00000459642.1:n.568C>T
ENST00000616242.4:c.1185C>T ENSP00000482149.1:p.Ser395=
NM_000162.3:c.1188C>T NP_000153.1:p.Ser396=
NM_033507.1:c.1191C>T NP_277042.1:p.Ser397=
NM_033508.1:c.1185C>T NP_277043.1:p.Ser395=
NM_000162.4:c.1188C>T NP_000153.1:p.Ser396=
NM_001354800.1:c.1188C>T NP_001341729.1:p.Ser396=
NM_001354801.1:c.177C>T NP_001341730.1:p.Ser59=
NM_001354802.1:c.48C>T NP_001341731.1:p.Ser16=
NM_001354803.1:c.222C>T NP_001341732.1:p.Ser74=
NM_033507.2:c.1191C>T NP_277042.1:p.Ser397=
NM_033508.2:c.1185C>T NP_277043.1:p.Ser395=
XM_024446707.1:c.48C>T XP_024302475.1:p.Ser16=
NM_000162.5:c.1188C>T MANE Select NP_000153.1:p.Ser396=
NM_033507.3:c.1191C>T NP_277042.1:p.Ser397=
NM_033508.3:c.1185C>T NP_277043.1:p.Ser395=
NM_001354803.2:c.222C>T NP_001341732.1:p.Ser74=