Canonical Allele Identifier: CA367400009

Gene: GCK

Linked Data

• gnomAD v4: 7-44146557-G-T
• MyVariant Identifiers: chr7:g.44186156G>T (hg19) ; chr7:g.44146557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146557G>T , CM000669.2:g.44146557G>T	GRCh38
NC_000007.13:g.44186156G>T , CM000669.1:g.44186156G>T	GRCh37
NC_000007.12:g.44152681G>T	NCBI36
NG_008847.1:g.47867C>A
NG_008847.2:g.56614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*923C>A	ENSP00000379142.4:n.*923C>A
ENST00000616242.5:c.*45C>A	ENSP00000482149.2:n.*45C>A
ENST00000683378.1:n.151C>A
ENST00000345378.7:c.928C>A	ENSP00000223366.2:p.Leu310Ile
ENST00000403799.8:c.925C>A MANE Select	ENSP00000384247.3:p.Leu309Ile
ENST00000671824.1:c.988C>A	ENSP00000500264.1:p.Leu330Ile
ENST00000673284.1:c.925C>A	ENSP00000499852.1:p.Leu309Ile
ENST00000345378.6:c.928C>A	ENSP00000223366.2:p.Leu310Ile
ENST00000395796.7:c.922C>A	ENSP00000379142.3:p.Leu308Ile
ENST00000403799.7:c.925C>A	ENSP00000384247.3:p.Leu309Ile
ENST00000437084.1:c.874C>A	ENSP00000402840.1:p.Leu292Ile
ENST00000473353.1:n.223C>A
ENST00000616242.4:c.922C>A	ENSP00000482149.1:p.Leu308Ile
NM_000162.3:c.925C>A	NP_000153.1:p.Leu309Ile
NM_033507.1:c.928C>A	NP_277042.1:p.Leu310Ile
NM_033508.1:c.922C>A	NP_277043.1:p.Leu308Ile
NM_000162.4:c.925C>A	NP_000153.1:p.Leu309Ile
NM_001354800.1:c.925C>A	NP_001341729.1:p.Leu309Ile
NM_001354801.1:c.8+62C>A	NP_001341730.1:n.8+62C>A
NM_033507.2:c.928C>A	NP_277042.1:p.Leu310Ile
NM_033508.2:c.922C>A	NP_277043.1:p.Leu308Ile
NM_000162.5:c.925C>A MANE Select	NP_000153.1:p.Leu309Ile
NM_033507.3:c.928C>A	NP_277042.1:p.Leu310Ile
NM_033508.3:c.922C>A	NP_277043.1:p.Leu308Ile