Canonical Allele Identifier: CA367399930

Gene: GCK

Linked Data

• gnomAD v4: 7-44146534-G-T
• MyVariant Identifiers: chr7:g.44186133G>T (hg19) ; chr7:g.44146534G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146534G>T , CM000669.2:g.44146534G>T	GRCh38
NC_000007.13:g.44186133G>T , CM000669.1:g.44186133G>T	GRCh37
NC_000007.12:g.44152658G>T	NCBI36
NG_008847.1:g.47890C>A
NG_008847.2:g.56637C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*946C>A	ENSP00000379142.4:n.*946C>A
ENST00000616242.5:c.*68C>A	ENSP00000482149.2:n.*68C>A
ENST00000683378.1:n.174C>A
ENST00000345378.7:c.951C>A	ENSP00000223366.2:p.Phe317Leu
ENST00000403799.8:c.948C>A MANE Select	ENSP00000384247.3:p.Phe316Leu
ENST00000671824.1:c.1011C>A	ENSP00000500264.1:p.Phe337Leu
ENST00000673284.1:c.948C>A	ENSP00000499852.1:p.Phe316Leu
ENST00000345378.6:c.951C>A	ENSP00000223366.2:p.Phe317Leu
ENST00000395796.7:c.945C>A	ENSP00000379142.3:p.Phe315Leu
ENST00000403799.7:c.948C>A	ENSP00000384247.3:p.Phe316Leu
ENST00000437084.1:c.897C>A	ENSP00000402840.1:p.Phe299Leu
ENST00000473353.1:n.246C>A
ENST00000616242.4:c.945C>A	ENSP00000482149.1:p.Phe315Leu
NM_000162.3:c.948C>A	NP_000153.1:p.Phe316Leu
NM_033507.1:c.951C>A	NP_277042.1:p.Phe317Leu
NM_033508.1:c.945C>A	NP_277043.1:p.Phe315Leu
NM_000162.4:c.948C>A	NP_000153.1:p.Phe316Leu
NM_001354800.1:c.948C>A	NP_001341729.1:p.Phe316Leu
NM_001354801.1:c.8+85C>A	NP_001341730.1:n.8+85C>A
NM_033507.2:c.951C>A	NP_277042.1:p.Phe317Leu
NM_033508.2:c.945C>A	NP_277043.1:p.Phe315Leu
NM_000162.5:c.948C>A MANE Select	NP_000153.1:p.Phe316Leu
NM_033507.3:c.951C>A	NP_277042.1:p.Phe317Leu
NM_033508.3:c.945C>A	NP_277043.1:p.Phe315Leu