Canonical Allele Identifier: CA367397190
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1306714325
gnomAD v2: 7-44184850-C-T
gnomAD v4: 7-44145251-C-T
MyVariant Identifiers: chr7:g.44184850C>T (hg19) chr7:g.44145251C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145251C>T , CM000669.2:g.44145251C>T GRCh38
NC_000007.13:g.44184850C>T , CM000669.1:g.44184850C>T GRCh37
NC_000007.12:g.44151375C>T NCBI36
NG_008847.1:g.49173G>A
NG_008847.2:g.57920G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1281G>A ENSP00000379142.4:n.*1281G>A
ENST00000616242.5:c.*403G>A ENSP00000482149.2:n.*403G>A
ENST00000683378.1:n.509G>A
ENST00000336642.9:c.317G>A ENSP00000338009.5:p.Arg106His
ENST00000345378.7:c.1286G>A ENSP00000223366.2:p.Arg429His
ENST00000403799.8:c.1283G>A MANE Select ENSP00000384247.3:p.Arg428His
ENST00000671824.1:c.1346G>A ENSP00000500264.1:p.Arg449His
ENST00000672743.1:n.295G>A
ENST00000673284.1:c.1283G>A ENSP00000499852.1:p.Arg428His
ENST00000336642.8:c.335G>A ENSP00000338009.4:p.Arg112His
ENST00000345378.6:c.1286G>A ENSP00000223366.2:p.Arg429His
ENST00000395796.7:c.1280G>A ENSP00000379142.3:p.Arg427His
ENST00000403799.7:c.1283G>A ENSP00000384247.3:p.Arg428His
ENST00000437084.1:c.1232G>A ENSP00000402840.1:p.Arg411His
ENST00000459642.1:n.663G>A
ENST00000616242.4:c.1280G>A ENSP00000482149.1:p.Arg427His
NM_000162.3:c.1283G>A NP_000153.1:p.Arg428His
NM_033507.1:c.1286G>A NP_277042.1:p.Arg429His
NM_033508.1:c.1280G>A NP_277043.1:p.Arg427His
NM_000162.4:c.1283G>A NP_000153.1:p.Arg428His
NM_001354800.1:c.1283G>A NP_001341729.1:p.Arg428His
NM_001354801.1:c.272G>A NP_001341730.1:p.Arg91His
NM_001354802.1:c.143G>A NP_001341731.1:p.Arg48His
NM_001354803.1:c.317G>A NP_001341732.1:p.Arg106His
NM_033507.2:c.1286G>A NP_277042.1:p.Arg429His
NM_033508.2:c.1280G>A NP_277043.1:p.Arg427His
XM_024446707.1:c.143G>A XP_024302475.1:p.Arg48His
NM_000162.5:c.1283G>A MANE Select NP_000153.1:p.Arg428His
NM_033507.3:c.1286G>A NP_277042.1:p.Arg429His
NM_033508.3:c.1280G>A NP_277043.1:p.Arg427His
NM_001354803.2:c.317G>A NP_001341732.1:p.Arg106His
Search 100 bp 5'
Search 100 bp 3'