Canonical Allele Identifier: CA367400646
Gene: GCK HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.44187368C>G (hg19) chr7:g.44147769C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147769C>G , CM000669.2:g.44147769C>G GRCh38
NC_000007.13:g.44187368C>G , CM000669.1:g.44187368C>G GRCh37
NC_000007.12:g.44153893C>G NCBI36
NG_008847.1:g.46655G>C
NG_008847.2:g.55402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*742G>C ENSP00000379142.4:n.*742G>C
ENST00000616242.5:c.744G>C ENSP00000482149.2:p.Glu248Asp
ENST00000345378.7:c.747G>C ENSP00000223366.2:p.Glu249Asp
ENST00000403799.8:c.744G>C MANE Select ENSP00000384247.3:p.Glu248Asp
ENST00000671824.1:c.744G>C ENSP00000500264.1:p.Glu248Asp
ENST00000673284.1:c.744G>C ENSP00000499852.1:p.Glu248Asp
ENST00000345378.6:c.747G>C ENSP00000223366.2:p.Glu249Asp
ENST00000395796.7:c.741G>C ENSP00000379142.3:p.Glu247Asp
ENST00000403799.7:c.744G>C ENSP00000384247.3:p.Glu248Asp
ENST00000437084.1:c.693G>C ENSP00000402840.1:p.Glu231Asp
ENST00000616242.4:c.741G>C ENSP00000482149.1:p.Glu247Asp
NM_000162.3:c.744G>C NP_000153.1:p.Glu248Asp
NM_033507.1:c.747G>C NP_277042.1:p.Glu249Asp
NM_033508.1:c.741G>C NP_277043.1:p.Glu247Asp
XR_927223.1:n.82+21C>G
NM_000162.4:c.744G>C NP_000153.1:p.Glu248Asp
NM_001354800.1:c.744G>C NP_001341729.1:p.Glu248Asp
NM_033507.2:c.747G>C NP_277042.1:p.Glu249Asp
NM_033508.2:c.741G>C NP_277043.1:p.Glu247Asp
XR_927223.2:n.82+21C>G
NM_000162.5:c.744G>C MANE Select NP_000153.1:p.Glu248Asp
NM_033507.3:c.747G>C NP_277042.1:p.Glu249Asp
NM_033508.3:c.741G>C NP_277043.1:p.Glu247Asp
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