Canonical Allele Identifier: CA367396876
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3024416
ClinVar RCV Id: RCV003883452
gnomAD v4: 7-44145176-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145176G>T , CM000669.2:g.44145176G>T GRCh38
NC_000007.13:g.44184775G>T , CM000669.1:g.44184775G>T GRCh37
NC_000007.12:g.44151300G>T NCBI36
NG_008847.1:g.49248C>A
NG_008847.2:g.57995C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1356C>A ENSP00000379142.4:n.*1356C>A
ENST00000616242.5:c.*478C>A ENSP00000482149.2:n.*478C>A
ENST00000683378.1:n.584C>A
ENST00000336642.9:c.392C>A ENSP00000338009.5:p.Ser131Ter
ENST00000345378.7:c.1361C>A ENSP00000223366.2:p.Ser454Ter
ENST00000403799.8:c.1358C>A MANE Select ENSP00000384247.3:p.Ser453Ter
ENST00000671824.1:c.1421C>A ENSP00000500264.1:p.Ser474Ter
ENST00000672743.1:n.370C>A
ENST00000673284.1:c.1358C>A ENSP00000499852.1:p.Ser453Ter
ENST00000336642.8:c.410C>A ENSP00000338009.4:p.Ser137Ter
ENST00000345378.6:c.1361C>A ENSP00000223366.2:p.Ser454Ter
ENST00000395796.7:c.1355C>A ENSP00000379142.3:p.Ser452Ter
ENST00000403799.7:c.1358C>A ENSP00000384247.3:p.Ser453Ter
ENST00000437084.1:c.1307C>A ENSP00000402840.1:p.Ser436Ter
ENST00000459642.1:n.738C>A
ENST00000616242.4:c.1355C>A ENSP00000482149.1:p.Ser452Ter
NM_000162.3:c.1358C>A NP_000153.1:p.Ser453Ter
NM_033507.1:c.1361C>A NP_277042.1:p.Ser454Ter
NM_033508.1:c.1355C>A NP_277043.1:p.Ser452Ter
NM_000162.4:c.1358C>A NP_000153.1:p.Ser453Ter
NM_001354800.1:c.1358C>A NP_001341729.1:p.Ser453Ter
NM_001354801.1:c.347C>A NP_001341730.1:p.Ser116Ter
NM_001354802.1:c.218C>A NP_001341731.1:p.Ser73Ter
NM_001354803.1:c.392C>A NP_001341732.1:p.Ser131Ter
NM_033507.2:c.1361C>A NP_277042.1:p.Ser454Ter
NM_033508.2:c.1355C>A NP_277043.1:p.Ser452Ter
XM_024446707.1:c.218C>A XP_024302475.1:p.Ser73Ter
NM_000162.5:c.1358C>A MANE Select NP_000153.1:p.Ser453Ter
NM_033507.3:c.1361C>A NP_277042.1:p.Ser454Ter
NM_033508.3:c.1355C>A NP_277043.1:p.Ser452Ter
NM_001354803.2:c.392C>A NP_001341732.1:p.Ser131Ter