Canonical Allele Identifier: CA367400411

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44187254C>G (hg19) ; chr7:g.44147655C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147655C>G , CM000669.2:g.44147655C>G	GRCh38
NC_000007.13:g.44187254C>G , CM000669.1:g.44187254C>G	GRCh37
NC_000007.12:g.44153779C>G	NCBI36
NG_008847.1:g.46769G>C
NG_008847.2:g.55516G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*856G>C	ENSP00000379142.4:n.*856G>C
ENST00000616242.5:c.853+5G>C	ENSP00000482149.2:n.853+5G>C
ENST00000345378.7:c.861G>C	ENSP00000223366.2:p.Gln287His
ENST00000403799.8:c.858G>C MANE Select	ENSP00000384247.3:p.Gln286His
ENST00000671824.1:c.853+5G>C	ENSP00000500264.1:n.853+5G>C
ENST00000673284.1:c.858G>C	ENSP00000499852.1:p.Gln286His
ENST00000345378.6:c.861G>C	ENSP00000223366.2:p.Gln287His
ENST00000395796.7:c.855G>C	ENSP00000379142.3:p.Gln285His
ENST00000403799.7:c.858G>C	ENSP00000384247.3:p.Gln286His
ENST00000437084.1:c.807G>C	ENSP00000402840.1:p.Gln269His
ENST00000616242.4:c.855G>C	ENSP00000482149.1:p.Gln285His
NM_000162.3:c.858G>C	NP_000153.1:p.Gln286His
NM_033507.1:c.861G>C	NP_277042.1:p.Gln287His
NM_033508.1:c.855G>C	NP_277043.1:p.Gln285His
NM_000162.4:c.858G>C	NP_000153.1:p.Gln286His
NM_001354800.1:c.858G>C	NP_001341729.1:p.Gln286His
NM_033507.2:c.861G>C	NP_277042.1:p.Gln287His
NM_033508.2:c.855G>C	NP_277043.1:p.Gln285His
NM_000162.5:c.858G>C MANE Select	NP_000153.1:p.Gln286His
NM_033507.3:c.861G>C	NP_277042.1:p.Gln287His
NM_033508.3:c.855G>C	NP_277043.1:p.Gln285His