Canonical Allele Identifier: CA4239620
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1188508
ClinVar RCV Id: RCV001548322 RCV002468267 RCV003956238 RCV004017847
dbSNP Id: rs142668032
ExAC: 7:44190529 G / T
gnomAD v2: 7-44190529-G-T
gnomAD v3: 7-44150930-G-T
gnomAD v4: 7-44150930-G-T
MyVariant Identifiers: chr7:g.44190529G>T (hg19) chr7:g.44150930G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150930G>T , CM000669.2:g.44150930G>T GRCh38
NC_000007.13:g.44190529G>T , CM000669.1:g.44190529G>T GRCh37
NC_000007.12:g.44157054G>T NCBI36
NG_008847.1:g.43494C>A
NG_008847.2:g.52241C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*481+26C>A ENSP00000379142.4:n.*481+26C>A
ENST00000616242.5:c.483+26C>A ENSP00000482149.2:n.483+26C>A
ENST00000682635.1:n.969+26C>A
ENST00000345378.7:c.486+26C>A ENSP00000223366.2:n.486+26C>A
ENST00000403799.8:c.483+26C>A MANE Select ENSP00000384247.3:n.483+26C>A
ENST00000671824.1:c.483+26C>A ENSP00000500264.1:n.483+26C>A
ENST00000673284.1:c.483+26C>A ENSP00000499852.1:n.483+26C>A
ENST00000345378.6:c.486+26C>A ENSP00000223366.2:n.486+26C>A
ENST00000395796.7:c.480+26C>A ENSP00000379142.3:n.480+26C>A
ENST00000403799.7:c.483+26C>A ENSP00000384247.3:n.483+26C>A
ENST00000437084.1:c.432+26C>A ENSP00000402840.1:n.432+26C>A
ENST00000616242.4:c.480+26C>A ENSP00000482149.1:n.480+26C>A
NM_000162.3:c.483+26C>A NP_000153.1:n.483+26C>A
NM_033507.1:c.486+26C>A NP_277042.1:n.486+26C>A
NM_033508.1:c.480+26C>A NP_277043.1:n.480+26C>A
NM_000162.4:c.483+26C>A NP_000153.1:n.483+26C>A
NM_001354800.1:c.483+26C>A NP_001341729.1:n.483+26C>A
NM_033507.2:c.486+26C>A NP_277042.1:n.486+26C>A
NM_033508.2:c.480+26C>A NP_277043.1:n.480+26C>A
NM_000162.5:c.483+26C>A MANE Select NP_000153.1:n.483+26C>A
NM_033507.3:c.486+26C>A NP_277042.1:n.486+26C>A
NM_033508.3:c.480+26C>A NP_277043.1:n.480+26C>A
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