Canonical Allele Identifier: CA367398208
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145501-G-T
MyVariant Identifiers: chr7:g.44185100G>T (hg19) chr7:g.44145501G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145501G>T , CM000669.2:g.44145501G>T GRCh38
NC_000007.13:g.44185100G>T , CM000669.1:g.44185100G>T GRCh37
NC_000007.12:g.44151625G>T NCBI36
NG_008847.1:g.48923C>A
NG_008847.2:g.57670C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1247C>A ENSP00000379142.4:n.*1247C>A
ENST00000616242.5:c.*369C>A ENSP00000482149.2:n.*369C>A
ENST00000683378.1:n.475C>A
ENST00000336642.9:c.283C>A ENSP00000338009.5:p.Pro95Thr
ENST00000345378.7:c.1252C>A ENSP00000223366.2:p.Pro418Thr
ENST00000403799.8:c.1249C>A MANE Select ENSP00000384247.3:p.Pro417Thr
ENST00000671824.1:c.1312C>A ENSP00000500264.1:p.Pro438Thr
ENST00000672743.1:n.261C>A
ENST00000673284.1:c.1249C>A ENSP00000499852.1:p.Pro417Thr
ENST00000336642.8:c.301C>A ENSP00000338009.4:p.Pro101Thr
ENST00000345378.6:c.1252C>A ENSP00000223366.2:p.Pro418Thr
ENST00000395796.7:c.1246C>A ENSP00000379142.3:p.Pro416Thr
ENST00000403799.7:c.1249C>A ENSP00000384247.3:p.Pro417Thr
ENST00000437084.1:c.1198C>A ENSP00000402840.1:p.Pro400Thr
ENST00000459642.1:n.629C>A
ENST00000616242.4:c.1246C>A ENSP00000482149.1:p.Pro416Thr
NM_000162.3:c.1249C>A NP_000153.1:p.Pro417Thr
NM_033507.1:c.1252C>A NP_277042.1:p.Pro418Thr
NM_033508.1:c.1246C>A NP_277043.1:p.Pro416Thr
NM_000162.4:c.1249C>A NP_000153.1:p.Pro417Thr
NM_001354800.1:c.1249C>A NP_001341729.1:p.Pro417Thr
NM_001354801.1:c.238C>A NP_001341730.1:p.Pro80Thr
NM_001354802.1:c.109C>A NP_001341731.1:p.Pro37Thr
NM_001354803.1:c.283C>A NP_001341732.1:p.Pro95Thr
NM_033507.2:c.1252C>A NP_277042.1:p.Pro418Thr
NM_033508.2:c.1246C>A NP_277043.1:p.Pro416Thr
XM_024446707.1:c.109C>A XP_024302475.1:p.Pro37Thr
NM_000162.5:c.1249C>A MANE Select NP_000153.1:p.Pro417Thr
NM_033507.3:c.1252C>A NP_277042.1:p.Pro418Thr
NM_033508.3:c.1246C>A NP_277043.1:p.Pro416Thr
NM_001354803.2:c.283C>A NP_001341732.1:p.Pro95Thr
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