Canonical Allele Identifier: CA1100760119
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096278059
gnomAD v3: 7-44149612-C-T
gnomAD v4: 7-44149612-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149612C>T , CM000669.2:g.44149612C>T GRCh38
NC_000007.13:g.44189211C>T , CM000669.1:g.44189211C>T GRCh37
NC_000007.12:g.44155736C>T NCBI36
NG_008847.1:g.44812G>A
NG_008847.2:g.53559G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*677+148G>A ENSP00000379142.4:n.*677+148G>A
ENST00000616242.5:c.679+148G>A ENSP00000482149.2:n.679+148G>A
ENST00000682635.1:n.1313G>A
ENST00000345378.7:c.682+148G>A ENSP00000223366.2:n.682+148G>A
ENST00000403799.8:c.679+148G>A MANE Select ENSP00000384247.3:n.679+148G>A
ENST00000671824.1:c.679+148G>A ENSP00000500264.1:n.679+148G>A
ENST00000673284.1:c.679+148G>A ENSP00000499852.1:n.679+148G>A
ENST00000345378.6:c.682+148G>A ENSP00000223366.2:n.682+148G>A
ENST00000395796.7:c.676+148G>A ENSP00000379142.3:n.676+148G>A
ENST00000403799.7:c.679+148G>A ENSP00000384247.3:n.679+148G>A
ENST00000437084.1:c.628+148G>A ENSP00000402840.1:n.628+148G>A
ENST00000616242.4:c.676+148G>A ENSP00000482149.1:n.676+148G>A
NM_000162.3:c.679+148G>A NP_000153.1:n.679+148G>A
NM_033507.1:c.682+148G>A NP_277042.1:n.682+148G>A
NM_033508.1:c.676+148G>A NP_277043.1:n.676+148G>A
XR_927223.1:n.204-77C>T
NM_000162.4:c.679+148G>A NP_000153.1:n.679+148G>A
NM_001354800.1:c.679+148G>A NP_001341729.1:n.679+148G>A
NM_033507.2:c.682+148G>A NP_277042.1:n.682+148G>A
NM_033508.2:c.676+148G>A NP_277043.1:n.676+148G>A
XR_927223.2:n.204-77C>T
NM_000162.5:c.679+148G>A MANE Select NP_000153.1:n.679+148G>A
NM_033507.3:c.682+148G>A NP_277042.1:n.682+148G>A
NM_033508.3:c.676+148G>A NP_277043.1:n.676+148G>A