Canonical Allele Identifier: CA367401285
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 435303
ClinVar RCV Id: RCV000500071 RCV002464217 RCV003718248
dbSNP Id: rs1554335400
MyVariant Identifiers: chr7:g.44189406A>T (hg19) chr7:g.44149807A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149807A>T , CM000669.2:g.44149807A>T GRCh38
NC_000007.13:g.44189406A>T , CM000669.1:g.44189406A>T GRCh37
NC_000007.12:g.44155931A>T NCBI36
NG_008847.1:g.44617T>A
NG_008847.2:g.53364T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*630T>A ENSP00000379142.4:n.*630T>A
ENST00000616242.5:c.632T>A ENSP00000482149.2:p.Ile211Asn
ENST00000682635.1:n.1118T>A
ENST00000345378.7:c.635T>A ENSP00000223366.2:p.Ile212Asn
ENST00000403799.8:c.632T>A MANE Select ENSP00000384247.3:p.Ile211Asn
ENST00000671824.1:c.632T>A ENSP00000500264.1:p.Ile211Asn
ENST00000673284.1:c.632T>A ENSP00000499852.1:p.Ile211Asn
ENST00000345378.6:c.635T>A ENSP00000223366.2:p.Ile212Asn
ENST00000395796.7:c.629T>A ENSP00000379142.3:p.Ile210Asn
ENST00000403799.7:c.632T>A ENSP00000384247.3:p.Ile211Asn
ENST00000437084.1:c.581T>A ENSP00000402840.1:p.Ile194Asn
ENST00000616242.4:c.629T>A ENSP00000482149.1:p.Ile210Asn
NM_000162.3:c.632T>A NP_000153.1:p.Ile211Asn
NM_033507.1:c.635T>A NP_277042.1:p.Ile212Asn
NM_033508.1:c.629T>A NP_277043.1:p.Ile210Asn
NM_000162.4:c.632T>A NP_000153.1:p.Ile211Asn
NM_001354800.1:c.632T>A NP_001341729.1:p.Ile211Asn
NM_033507.2:c.635T>A NP_277042.1:p.Ile212Asn
NM_033508.2:c.629T>A NP_277043.1:p.Ile210Asn
NM_000162.5:c.632T>A MANE Select NP_000153.1:p.Ile211Asn
NM_033507.3:c.635T>A NP_277042.1:p.Ile212Asn
NM_033508.3:c.629T>A NP_277043.1:p.Ile210Asn
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