Canonical Allele Identifier: CA367402719

Gene: GCK

Linked Data

• ClinVar Variation Id: 972812
• ClinVar RCV Id: RCV001249069 ; RCV003558760 ; RCV002464038
• dbSNP Id: rs2096281702
• gnomAD v4: 7-44152318-G-A
• MyVariant Identifiers: chr7:g.44191917G>A (hg19) ; chr7:g.44152318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152318G>A , CM000669.2:g.44152318G>A	GRCh38
NC_000007.13:g.44191917G>A , CM000669.1:g.44191917G>A	GRCh37
NC_000007.12:g.44158442G>A	NCBI36
NG_008847.1:g.42106C>T
NG_008847.2:g.50853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*314C>T	ENSP00000379142.4:n.*314C>T
ENST00000616242.5:c.316C>T	ENSP00000482149.2:p.Gln106Ter
ENST00000682635.1:n.802C>T
ENST00000345378.7:c.319C>T	ENSP00000223366.2:p.Gln107Ter
ENST00000403799.8:c.316C>T MANE Select	ENSP00000384247.3:p.Gln106Ter
ENST00000671824.1:c.316C>T	ENSP00000500264.1:p.Gln106Ter
ENST00000673284.1:c.316C>T	ENSP00000499852.1:p.Gln106Ter
ENST00000345378.6:c.319C>T	ENSP00000223366.2:p.Gln107Ter
ENST00000395796.7:c.313C>T	ENSP00000379142.3:p.Gln105Ter
ENST00000403799.7:c.316C>T	ENSP00000384247.3:p.Gln106Ter
ENST00000437084.1:c.316C>T	ENSP00000402840.1:p.Gln106Ter
ENST00000616242.4:c.313C>T	ENSP00000482149.1:p.Gln105Ter
NM_000162.3:c.316C>T	NP_000153.1:p.Gln106Ter
NM_033507.1:c.319C>T	NP_277042.1:p.Gln107Ter
NM_033508.1:c.313C>T	NP_277043.1:p.Gln105Ter
NM_000162.4:c.316C>T	NP_000153.1:p.Gln106Ter
NM_001354800.1:c.316C>T	NP_001341729.1:p.Gln106Ter
NM_033507.2:c.319C>T	NP_277042.1:p.Gln107Ter
NM_033508.2:c.313C>T	NP_277043.1:p.Gln105Ter
NM_000162.5:c.316C>T MANE Select	NP_000153.1:p.Gln106Ter
NM_033507.3:c.319C>T	NP_277042.1:p.Gln107Ter
NM_033508.3:c.313C>T	NP_277043.1:p.Gln105Ter