Canonical Allele Identifier: CA4239560
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs758818755
gnomAD v2: 7-44189342-G-A
gnomAD v4: 7-44149743-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149743G>A , CM000669.2:g.44149743G>A GRCh38
NC_000007.13:g.44189342G>A , CM000669.1:g.44189342G>A GRCh37
NC_000007.12:g.44155867G>A NCBI36
NG_008847.1:g.44681C>T
NG_008847.2:g.53428C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*677+17C>T ENSP00000379142.4:n.*677+17C>T
ENST00000616242.5:c.679+17C>T ENSP00000482149.2:n.679+17C>T
ENST00000682635.1:n.1182C>T
ENST00000345378.7:c.682+17C>T ENSP00000223366.2:n.682+17C>T
ENST00000403799.8:c.679+17C>T MANE Select ENSP00000384247.3:n.679+17C>T
ENST00000671824.1:c.679+17C>T ENSP00000500264.1:n.679+17C>T
ENST00000673284.1:c.679+17C>T ENSP00000499852.1:n.679+17C>T
ENST00000345378.6:c.682+17C>T ENSP00000223366.2:n.682+17C>T
ENST00000395796.7:c.676+17C>T ENSP00000379142.3:n.676+17C>T
ENST00000403799.7:c.679+17C>T ENSP00000384247.3:n.679+17C>T
ENST00000437084.1:c.628+17C>T ENSP00000402840.1:n.628+17C>T
ENST00000616242.4:c.676+17C>T ENSP00000482149.1:n.676+17C>T
NM_000162.3:c.679+17C>T NP_000153.1:n.679+17C>T
NM_033507.1:c.682+17C>T NP_277042.1:n.682+17C>T
NM_033508.1:c.676+17C>T NP_277043.1:n.676+17C>T
XR_927223.1:n.258G>A
NM_000162.4:c.679+17C>T NP_000153.1:n.679+17C>T
NM_001354800.1:c.679+17C>T NP_001341729.1:n.679+17C>T
NM_033507.2:c.682+17C>T NP_277042.1:n.682+17C>T
NM_033508.2:c.676+17C>T NP_277043.1:n.676+17C>T
XR_927223.2:n.258G>A
NM_000162.5:c.679+17C>T MANE Select NP_000153.1:n.679+17C>T
NM_033507.3:c.682+17C>T NP_277042.1:n.682+17C>T
NM_033508.3:c.676+17C>T NP_277043.1:n.676+17C>T