Canonical Allele Identifier: CA367400534

Gene: GCK

Linked Data

• gnomAD v4: 7-44147713-T-C
• MyVariant Identifiers: chr7:g.44187312T>C (hg19) ; chr7:g.44147713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147713T>C , CM000669.2:g.44147713T>C	GRCh38
NC_000007.13:g.44187312T>C , CM000669.1:g.44187312T>C	GRCh37
NC_000007.12:g.44153837T>C	NCBI36
NG_008847.1:g.46711A>G
NG_008847.2:g.55458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*798A>G	ENSP00000379142.4:n.*798A>G
ENST00000616242.5:c.800A>G	ENSP00000482149.2:p.Asp267Gly
ENST00000345378.7:c.803A>G	ENSP00000223366.2:p.Asp268Gly
ENST00000403799.8:c.800A>G MANE Select	ENSP00000384247.3:p.Asp267Gly
ENST00000671824.1:c.800A>G	ENSP00000500264.1:p.Asp267Gly
ENST00000673284.1:c.800A>G	ENSP00000499852.1:p.Asp267Gly
ENST00000345378.6:c.803A>G	ENSP00000223366.2:p.Asp268Gly
ENST00000395796.7:c.797A>G	ENSP00000379142.3:p.Asp266Gly
ENST00000403799.7:c.800A>G	ENSP00000384247.3:p.Asp267Gly
ENST00000437084.1:c.749A>G	ENSP00000402840.1:p.Asp250Gly
ENST00000616242.4:c.797A>G	ENSP00000482149.1:p.Asp266Gly
NM_000162.3:c.800A>G	NP_000153.1:p.Asp267Gly
NM_033507.1:c.803A>G	NP_277042.1:p.Asp268Gly
NM_033508.1:c.797A>G	NP_277043.1:p.Asp266Gly
XR_927223.1:n.47T>C
NM_000162.4:c.800A>G	NP_000153.1:p.Asp267Gly
NM_001354800.1:c.800A>G	NP_001341729.1:p.Asp267Gly
NM_033507.2:c.803A>G	NP_277042.1:p.Asp268Gly
NM_033508.2:c.797A>G	NP_277043.1:p.Asp266Gly
XR_927223.2:n.47T>C
NM_000162.5:c.800A>G MANE Select	NP_000153.1:p.Asp267Gly
NM_033507.3:c.803A>G	NP_277042.1:p.Asp268Gly
NM_033508.3:c.797A>G	NP_277043.1:p.Asp266Gly