Canonical Allele Identifier: CA2578878133
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44146622-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146622G>T , CM000669.2:g.44146622G>T GRCh38
NC_000007.13:g.44186221G>T , CM000669.1:g.44186221G>T GRCh37
NC_000007.12:g.44152746G>T NCBI36
NG_008847.1:g.47802C>A
NG_008847.2:g.56549C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*862-4C>A ENSP00000379142.4:n.*862-4C>A
ENST00000616242.5:c.854-4C>A ENSP00000482149.2:n.854-4C>A
ENST00000683378.1:n.86C>A
ENST00000345378.7:c.867-4C>A ENSP00000223366.2:n.867-4C>A
ENST00000403799.8:c.864-4C>A MANE Select ENSP00000384247.3:n.864-4C>A
ENST00000671824.1:c.927-4C>A ENSP00000500264.1:n.927-4C>A
ENST00000673284.1:c.864-4C>A ENSP00000499852.1:n.864-4C>A
ENST00000345378.6:c.867-4C>A ENSP00000223366.2:n.867-4C>A
ENST00000395796.7:c.861-4C>A ENSP00000379142.3:n.861-4C>A
ENST00000403799.7:c.864-4C>A ENSP00000384247.3:n.864-4C>A
ENST00000437084.1:c.813-4C>A ENSP00000402840.1:n.813-4C>A
ENST00000473353.1:n.162-4C>A
ENST00000616242.4:c.861-4C>A ENSP00000482149.1:n.861-4C>A
NM_000162.3:c.864-4C>A NP_000153.1:n.864-4C>A
NM_033507.1:c.867-4C>A NP_277042.1:n.867-4C>A
NM_033508.1:c.861-4C>A NP_277043.1:n.861-4C>A
NM_000162.4:c.864-4C>A NP_000153.1:n.864-4C>A
NM_001354800.1:c.864-4C>A NP_001341729.1:n.864-4C>A
NM_001354801.1:c.5C>A NP_001341730.1:p.Ser2Tyr
NM_033507.2:c.867-4C>A NP_277042.1:n.867-4C>A
NM_033508.2:c.861-4C>A NP_277043.1:n.861-4C>A
NM_000162.5:c.864-4C>A MANE Select NP_000153.1:n.864-4C>A
NM_033507.3:c.867-4C>A NP_277042.1:n.867-4C>A
NM_033508.3:c.861-4C>A NP_277043.1:n.861-4C>A