Canonical Allele Identifier: CA367402232
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 435307
ClinVar RCV Id: RCV000504203 RCV002473026 RCV002464017 RCV003993664
dbSNP Id: rs1554335616
gnomAD v4: 7-44151075-G-T
MyVariant Identifiers: chr7:g.44190674G>T (hg19) chr7:g.44151075G>T (hg38)
ERepo: CA367402232/MONDO:0015967/086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151075G>T , CM000669.2:g.44151075G>T GRCh38
NC_000007.13:g.44190674G>T , CM000669.1:g.44190674G>T GRCh37
NC_000007.12:g.44157199G>T NCBI36
NG_008847.1:g.43349C>A
NG_008847.2:g.52096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*362C>A ENSP00000379142.4:n.*362C>A
ENST00000616242.5:c.364C>A ENSP00000482149.2:p.Leu122Ile
ENST00000682635.1:n.850C>A
ENST00000345378.7:c.367C>A ENSP00000223366.2:p.Leu123Ile
ENST00000403799.8:c.364C>A MANE Select ENSP00000384247.3:p.Leu122Ile
ENST00000671824.1:c.364C>A ENSP00000500264.1:p.Leu122Ile
ENST00000673284.1:c.364C>A ENSP00000499852.1:p.Leu122Ile
ENST00000345378.6:c.367C>A ENSP00000223366.2:p.Leu123Ile
ENST00000395796.7:c.361C>A ENSP00000379142.3:p.Leu121Ile
ENST00000403799.7:c.364C>A ENSP00000384247.3:p.Leu122Ile
ENST00000437084.1:c.364-51C>A ENSP00000402840.1:n.364-51C>A
ENST00000616242.4:c.361C>A ENSP00000482149.1:p.Leu121Ile
NM_000162.3:c.364C>A NP_000153.1:p.Leu122Ile
NM_033507.1:c.367C>A NP_277042.1:p.Leu123Ile
NM_033508.1:c.361C>A NP_277043.1:p.Leu121Ile
NM_000162.4:c.364C>A NP_000153.1:p.Leu122Ile
NM_001354800.1:c.364C>A NP_001341729.1:p.Leu122Ile
NM_033507.2:c.367C>A NP_277042.1:p.Leu123Ile
NM_033508.2:c.361C>A NP_277043.1:p.Leu121Ile
NM_000162.5:c.364C>A MANE Select NP_000153.1:p.Leu122Ile
NM_033507.3:c.367C>A NP_277042.1:p.Leu123Ile
NM_033508.3:c.361C>A NP_277043.1:p.Leu121Ile
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