Canonical Allele Identifier: CA213866

Gene: GCK

Linked Data

• ClinVar Variation Id: 36266
• ClinVar RCV Id: RCV000029929 ; RCV001818187
• dbSNP Id: rs193922338
• gnomAD v4: 7-44146538-A-T
• MyVariant Identifiers: chr7:g.44186137A>T (hg19) ; chr7:g.44146538A>T (hg38)
• PubMed: PMID:16602010 ; PMID:20337973

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146538A>T , CM000669.2:g.44146538A>T	GRCh38
NC_000007.13:g.44186137A>T , CM000669.1:g.44186137A>T	GRCh37
NC_000007.12:g.44152662A>T	NCBI36
NG_008847.1:g.47886T>A
NG_008847.2:g.56633T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*942T>A	ENSP00000379142.4:n.*942T>A
ENST00000616242.5:c.*64T>A	ENSP00000482149.2:n.*64T>A
ENST00000683378.1:n.170T>A
ENST00000345378.7:c.947T>A	ENSP00000223366.2:p.Leu316His
ENST00000403799.8:c.944T>A MANE Select	ENSP00000384247.3:p.Leu315His
ENST00000671824.1:c.1007T>A	ENSP00000500264.1:p.Leu336His
ENST00000673284.1:c.944T>A	ENSP00000499852.1:p.Leu315His
ENST00000345378.6:c.947T>A	ENSP00000223366.2:p.Leu316His
ENST00000395796.7:c.941T>A	ENSP00000379142.3:p.Leu314His
ENST00000403799.7:c.944T>A	ENSP00000384247.3:p.Leu315His
ENST00000437084.1:c.893T>A	ENSP00000402840.1:p.Leu298His
ENST00000473353.1:n.242T>A
ENST00000616242.4:c.941T>A	ENSP00000482149.1:p.Leu314His
NM_000162.3:c.944T>A	NP_000153.1:p.Leu315His
NM_033507.1:c.947T>A	NP_277042.1:p.Leu316His
NM_033508.1:c.941T>A	NP_277043.1:p.Leu314His
NM_000162.4:c.944T>A	NP_000153.1:p.Leu315His
NM_001354800.1:c.944T>A	NP_001341729.1:p.Leu315His
NM_001354801.1:c.8+81T>A	NP_001341730.1:n.8+81T>A
NM_033507.2:c.947T>A	NP_277042.1:p.Leu316His
NM_033508.2:c.941T>A	NP_277043.1:p.Leu314His
NM_000162.5:c.944T>A MANE Select	NP_000153.1:p.Leu315His
NM_033507.3:c.947T>A	NP_277042.1:p.Leu316His
NM_033508.3:c.941T>A	NP_277043.1:p.Leu314His