Canonical Allele Identifier: CA367397318
Gene: GCK HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.44184878A>T (hg19) chr7:g.44145279A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145279A>T , CM000669.2:g.44145279A>T GRCh38
NC_000007.13:g.44184878A>T , CM000669.1:g.44184878A>T GRCh37
NC_000007.12:g.44151403A>T NCBI36
NG_008847.1:g.49145T>A
NG_008847.2:g.57892T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1253T>A ENSP00000379142.4:n.*1253T>A
ENST00000616242.5:c.*375T>A ENSP00000482149.2:n.*375T>A
ENST00000683378.1:n.481T>A
ENST00000336642.9:c.289T>A ENSP00000338009.5:p.Phe97Ile
ENST00000345378.7:c.1258T>A ENSP00000223366.2:p.Phe420Ile
ENST00000403799.8:c.1255T>A MANE Select ENSP00000384247.3:p.Phe419Ile
ENST00000671824.1:c.1318T>A ENSP00000500264.1:p.Phe440Ile
ENST00000672743.1:n.267T>A
ENST00000673284.1:c.1255T>A ENSP00000499852.1:p.Phe419Ile
ENST00000336642.8:c.307T>A ENSP00000338009.4:p.Phe103Ile
ENST00000345378.6:c.1258T>A ENSP00000223366.2:p.Phe420Ile
ENST00000395796.7:c.1252T>A ENSP00000379142.3:p.Phe418Ile
ENST00000403799.7:c.1255T>A ENSP00000384247.3:p.Phe419Ile
ENST00000437084.1:c.1204T>A ENSP00000402840.1:p.Phe402Ile
ENST00000459642.1:n.635T>A
ENST00000616242.4:c.1252T>A ENSP00000482149.1:p.Phe418Ile
NM_000162.3:c.1255T>A NP_000153.1:p.Phe419Ile
NM_033507.1:c.1258T>A NP_277042.1:p.Phe420Ile
NM_033508.1:c.1252T>A NP_277043.1:p.Phe418Ile
NM_000162.4:c.1255T>A NP_000153.1:p.Phe419Ile
NM_001354800.1:c.1255T>A NP_001341729.1:p.Phe419Ile
NM_001354801.1:c.244T>A NP_001341730.1:p.Phe82Ile
NM_001354802.1:c.115T>A NP_001341731.1:p.Phe39Ile
NM_001354803.1:c.289T>A NP_001341732.1:p.Phe97Ile
NM_033507.2:c.1258T>A NP_277042.1:p.Phe420Ile
NM_033508.2:c.1252T>A NP_277043.1:p.Phe418Ile
XM_024446707.1:c.115T>A XP_024302475.1:p.Phe39Ile
NM_000162.5:c.1255T>A MANE Select NP_000153.1:p.Phe419Ile
NM_033507.3:c.1258T>A NP_277042.1:p.Phe420Ile
NM_033508.3:c.1252T>A NP_277043.1:p.Phe418Ile
NM_001354803.2:c.289T>A NP_001341732.1:p.Phe97Ile
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