Canonical Allele Identifier: CA367399782

Gene: GCK

Linked Data

• gnomAD v4: 7-44146491-C-T
• MyVariant Identifiers: chr7:g.44186090C>T (hg19) ; chr7:g.44146491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146491C>T , CM000669.2:g.44146491C>T	GRCh38
NC_000007.13:g.44186090C>T , CM000669.1:g.44186090C>T	GRCh37
NC_000007.12:g.44152615C>T	NCBI36
NG_008847.1:g.47933G>A
NG_008847.2:g.56680G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*989G>A	ENSP00000379142.4:n.*989G>A
ENST00000616242.5:c.*111G>A	ENSP00000482149.2:n.*111G>A
ENST00000683378.1:n.217G>A
ENST00000345378.7:c.994G>A	ENSP00000223366.2:p.Glu332Lys
ENST00000403799.8:c.991G>A MANE Select	ENSP00000384247.3:p.Glu331Lys
ENST00000671824.1:c.1054G>A	ENSP00000500264.1:p.Glu352Lys
ENST00000673284.1:c.991G>A	ENSP00000499852.1:p.Glu331Lys
ENST00000345378.6:c.994G>A	ENSP00000223366.2:p.Glu332Lys
ENST00000395796.7:c.988G>A	ENSP00000379142.3:p.Glu330Lys
ENST00000403799.7:c.991G>A	ENSP00000384247.3:p.Glu331Lys
ENST00000437084.1:c.940G>A	ENSP00000402840.1:p.Glu314Lys
ENST00000473353.1:n.289G>A
ENST00000616242.4:c.988G>A	ENSP00000482149.1:p.Glu330Lys
NM_000162.3:c.991G>A	NP_000153.1:p.Glu331Lys
NM_033507.1:c.994G>A	NP_277042.1:p.Glu332Lys
NM_033508.1:c.988G>A	NP_277043.1:p.Glu330Lys
NM_000162.4:c.991G>A	NP_000153.1:p.Glu331Lys
NM_001354800.1:c.991G>A	NP_001341729.1:p.Glu331Lys
NM_001354801.1:c.8+128G>A	NP_001341730.1:n.8+128G>A
NM_033507.2:c.994G>A	NP_277042.1:p.Glu332Lys
NM_033508.2:c.988G>A	NP_277043.1:p.Glu330Lys
NM_000162.5:c.991G>A MANE Select	NP_000153.1:p.Glu331Lys
NM_033507.3:c.994G>A	NP_277042.1:p.Glu332Lys
NM_033508.3:c.988G>A	NP_277043.1:p.Glu330Lys