Canonical Allele Identifier: CA157918072
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1251444
ClinVar RCV Id: RCV001657381
dbSNP Id: rs115206967
gnomAD v2: 7-44190497-T-A
gnomAD v3: 7-44150898-T-A
gnomAD v4: 7-44150898-T-A
MyVariant Identifiers: chr7:g.44190497T>A (hg19) chr7:g.44150898T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150898T>A , CM000669.2:g.44150898T>A GRCh38
NC_000007.13:g.44190497T>A , CM000669.1:g.44190497T>A GRCh37
NC_000007.12:g.44157022T>A NCBI36
NG_008847.1:g.43526A>T
NG_008847.2:g.52273A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*481+58A>T ENSP00000379142.4:n.*481+58A>T
ENST00000616242.5:c.483+58A>T ENSP00000482149.2:n.483+58A>T
ENST00000682635.1:n.969+58A>T
ENST00000345378.7:c.486+58A>T ENSP00000223366.2:n.486+58A>T
ENST00000403799.8:c.483+58A>T MANE Select ENSP00000384247.3:n.483+58A>T
ENST00000671824.1:c.483+58A>T ENSP00000500264.1:n.483+58A>T
ENST00000673284.1:c.483+58A>T ENSP00000499852.1:n.483+58A>T
ENST00000345378.6:c.486+58A>T ENSP00000223366.2:n.486+58A>T
ENST00000395796.7:c.480+58A>T ENSP00000379142.3:n.480+58A>T
ENST00000403799.7:c.483+58A>T ENSP00000384247.3:n.483+58A>T
ENST00000437084.1:c.432+58A>T ENSP00000402840.1:n.432+58A>T
ENST00000616242.4:c.480+58A>T ENSP00000482149.1:n.480+58A>T
NM_000162.3:c.483+58A>T NP_000153.1:n.483+58A>T
NM_033507.1:c.486+58A>T NP_277042.1:n.486+58A>T
NM_033508.1:c.480+58A>T NP_277043.1:n.480+58A>T
NM_000162.4:c.483+58A>T NP_000153.1:n.483+58A>T
NM_001354800.1:c.483+58A>T NP_001341729.1:n.483+58A>T
NM_033507.2:c.486+58A>T NP_277042.1:n.486+58A>T
NM_033508.2:c.480+58A>T NP_277043.1:n.480+58A>T
NM_000162.5:c.483+58A>T MANE Select NP_000153.1:n.483+58A>T
NM_033507.3:c.486+58A>T NP_277042.1:n.486+58A>T
NM_033508.3:c.480+58A>T NP_277043.1:n.480+58A>T
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