Canonical Allele Identifier: CA1703613288
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1583593443
gnomAD v4: 7-44146221-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146221T>C , CM000669.2:g.44146221T>C GRCh38
NC_000007.13:g.44185820T>C , CM000669.1:g.44185820T>C GRCh37
NC_000007.12:g.44152345T>C NCBI36
NG_008847.1:g.48203A>G
NG_008847.2:g.56950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1017+242A>G ENSP00000379142.4:n.*1017+242A>G
ENST00000616242.5:c.*139+242A>G ENSP00000482149.2:n.*139+242A>G
ENST00000683378.1:n.245+242A>G
ENST00000345378.7:c.1022+242A>G ENSP00000223366.2:n.1022+242A>G
ENST00000403799.8:c.1019+242A>G MANE Select ENSP00000384247.3:n.1019+242A>G
ENST00000671824.1:c.1082+242A>G ENSP00000500264.1:n.1082+242A>G
ENST00000673284.1:c.1019+242A>G ENSP00000499852.1:n.1019+242A>G
ENST00000345378.6:c.1022+242A>G ENSP00000223366.2:n.1022+242A>G
ENST00000395796.7:c.1016+242A>G ENSP00000379142.3:n.1016+242A>G
ENST00000403799.7:c.1019+242A>G ENSP00000384247.3:n.1019+242A>G
ENST00000437084.1:c.968+242A>G ENSP00000402840.1:n.968+242A>G
ENST00000473353.1:n.317+242A>G
ENST00000616242.4:c.1016+242A>G ENSP00000482149.1:n.1016+242A>G
NM_000162.3:c.1019+242A>G NP_000153.1:n.1019+242A>G
NM_033507.1:c.1022+242A>G NP_277042.1:n.1022+242A>G
NM_033508.1:c.1016+242A>G NP_277043.1:n.1016+242A>G
NM_000162.4:c.1019+242A>G NP_000153.1:n.1019+242A>G
NM_001354800.1:c.1019+242A>G NP_001341729.1:n.1019+242A>G
NM_001354801.1:c.8+398A>G NP_001341730.1:n.8+398A>G
NM_033507.2:c.1022+242A>G NP_277042.1:n.1022+242A>G
NM_033508.2:c.1016+242A>G NP_277043.1:n.1016+242A>G
NM_000162.5:c.1019+242A>G MANE Select NP_000153.1:n.1019+242A>G
NM_033507.3:c.1022+242A>G NP_277042.1:n.1022+242A>G
NM_033508.3:c.1016+242A>G NP_277043.1:n.1016+242A>G