Canonical Allele Identifier: CA367401718
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1431824236
gnomAD v2: 7-44189634-G-C
gnomAD v4: 7-44150035-G-C
MyVariant Identifiers: chr7:g.44189634G>C (hg19) chr7:g.44150035G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150035G>C , CM000669.2:g.44150035G>C GRCh38
NC_000007.13:g.44189634G>C , CM000669.1:g.44189634G>C GRCh37
NC_000007.12:g.44156159G>C NCBI36
NG_008847.1:g.44389C>G
NG_008847.2:g.53136C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*511C>G ENSP00000379142.4:n.*511C>G
ENST00000616242.5:c.513C>G ENSP00000482149.2:p.Phe171Leu
ENST00000682635.1:n.999C>G
ENST00000345378.7:c.516C>G ENSP00000223366.2:p.Phe172Leu
ENST00000403799.8:c.513C>G MANE Select ENSP00000384247.3:p.Phe171Leu
ENST00000671824.1:c.513C>G ENSP00000500264.1:p.Phe171Leu
ENST00000673284.1:c.513C>G ENSP00000499852.1:p.Phe171Leu
ENST00000345378.6:c.516C>G ENSP00000223366.2:p.Phe172Leu
ENST00000395796.7:c.510C>G ENSP00000379142.3:p.Phe170Leu
ENST00000403799.7:c.513C>G ENSP00000384247.3:p.Phe171Leu
ENST00000437084.1:c.462C>G ENSP00000402840.1:p.Phe154Leu
ENST00000616242.4:c.510C>G ENSP00000482149.1:p.Phe170Leu
NM_000162.3:c.513C>G NP_000153.1:p.Phe171Leu
NM_033507.1:c.516C>G NP_277042.1:p.Phe172Leu
NM_033508.1:c.510C>G NP_277043.1:p.Phe170Leu
NM_000162.4:c.513C>G NP_000153.1:p.Phe171Leu
NM_001354800.1:c.513C>G NP_001341729.1:p.Phe171Leu
NM_033507.2:c.516C>G NP_277042.1:p.Phe172Leu
NM_033508.2:c.510C>G NP_277043.1:p.Phe170Leu
NM_000162.5:c.513C>G MANE Select NP_000153.1:p.Phe171Leu
NM_033507.3:c.516C>G NP_277042.1:p.Phe172Leu
NM_033508.3:c.510C>G NP_277043.1:p.Phe170Leu
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