Canonical Allele Identifier: CA213814
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36236
ClinVar RCV Id: RCV000029899 RCV002362597 RCV003318496
dbSNP Id: rs193922313
MyVariant Identifiers: chr7:g.44189408C>A (hg19) chr7:g.44149809C>A (hg38)
ERepo: CA213814/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149809C>A , CM000669.2:g.44149809C>A GRCh38
NC_000007.13:g.44189408C>A , CM000669.1:g.44189408C>A GRCh37
NC_000007.12:g.44155933C>A NCBI36
NG_008847.1:g.44615G>T
NG_008847.2:g.53362G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*628G>T ENSP00000379142.4:n.*628G>T
ENST00000616242.5:c.630G>T ENSP00000482149.2:p.Met210Ile
ENST00000682635.1:n.1116G>T
ENST00000345378.7:c.633G>T ENSP00000223366.2:p.Met211Ile
ENST00000403799.8:c.630G>T MANE Select ENSP00000384247.3:p.Met210Ile
ENST00000671824.1:c.630G>T ENSP00000500264.1:p.Met210Ile
ENST00000673284.1:c.630G>T ENSP00000499852.1:p.Met210Ile
ENST00000345378.6:c.633G>T ENSP00000223366.2:p.Met211Ile
ENST00000395796.7:c.627G>T ENSP00000379142.3:p.Met209Ile
ENST00000403799.7:c.630G>T ENSP00000384247.3:p.Met210Ile
ENST00000437084.1:c.579G>T ENSP00000402840.1:p.Met193Ile
ENST00000616242.4:c.627G>T ENSP00000482149.1:p.Met209Ile
NM_000162.3:c.630G>T NP_000153.1:p.Met210Ile
NM_033507.1:c.633G>T NP_277042.1:p.Met211Ile
NM_033508.1:c.627G>T NP_277043.1:p.Met209Ile
NM_000162.4:c.630G>T NP_000153.1:p.Met210Ile
NM_001354800.1:c.630G>T NP_001341729.1:p.Met210Ile
NM_033507.2:c.633G>T NP_277042.1:p.Met211Ile
NM_033508.2:c.627G>T NP_277043.1:p.Met209Ile
NM_000162.5:c.630G>T MANE Select NP_000153.1:p.Met210Ile
NM_033507.3:c.633G>T NP_277042.1:p.Met211Ile
NM_033508.3:c.627G>T NP_277043.1:p.Met209Ile
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