Canonical Allele Identifier: CA367400163

Gene: GCK

Linked Data

• ClinVar Variation Id: 1700684
• ClinVar RCV Id: RCV002285562
• gnomAD v4: 7-44146604-A-C
• MyVariant Identifiers: chr7:g.44186203A>C (hg19) ; chr7:g.44146604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146604A>C , CM000669.2:g.44146604A>C	GRCh38
NC_000007.13:g.44186203A>C , CM000669.1:g.44186203A>C	GRCh37
NC_000007.12:g.44152728A>C	NCBI36
NG_008847.1:g.47820T>G
NG_008847.2:g.56567T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*876T>G	ENSP00000379142.4:n.*876T>G
ENST00000616242.5:c.868T>G	ENSP00000482149.2:p.Ter290Glu
ENST00000683378.1:n.104T>G
ENST00000345378.7:c.881T>G	ENSP00000223366.2:p.Ile294Arg
ENST00000403799.8:c.878T>G MANE Select	ENSP00000384247.3:p.Ile293Arg
ENST00000671824.1:c.941T>G	ENSP00000500264.1:p.Ile314Arg
ENST00000673284.1:c.878T>G	ENSP00000499852.1:p.Ile293Arg
ENST00000345378.6:c.881T>G	ENSP00000223366.2:p.Ile294Arg
ENST00000395796.7:c.875T>G	ENSP00000379142.3:p.Ile292Arg
ENST00000403799.7:c.878T>G	ENSP00000384247.3:p.Ile293Arg
ENST00000437084.1:c.827T>G	ENSP00000402840.1:p.Ile276Arg
ENST00000473353.1:n.176T>G
ENST00000616242.4:c.875T>G	ENSP00000482149.1:p.Ile292Arg
NM_000162.3:c.878T>G	NP_000153.1:p.Ile293Arg
NM_033507.1:c.881T>G	NP_277042.1:p.Ile294Arg
NM_033508.1:c.875T>G	NP_277043.1:p.Ile292Arg
NM_000162.4:c.878T>G	NP_000153.1:p.Ile293Arg
NM_001354800.1:c.878T>G	NP_001341729.1:p.Ile293Arg
NM_001354801.1:c.8+15T>G	NP_001341730.1:n.8+15T>G
NM_033507.2:c.881T>G	NP_277042.1:p.Ile294Arg
NM_033508.2:c.875T>G	NP_277043.1:p.Ile292Arg
NM_000162.5:c.878T>G MANE Select	NP_000153.1:p.Ile293Arg
NM_033507.3:c.881T>G	NP_277042.1:p.Ile294Arg
NM_033508.3:c.875T>G	NP_277043.1:p.Ile292Arg