Canonical Allele Identifier: CA367400190

Gene: GCK

Linked Data

• gnomAD v4: 7-44146608-G-T
• MyVariant Identifiers: chr7:g.44186207G>T (hg19) ; chr7:g.44146608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146608G>T , CM000669.2:g.44146608G>T	GRCh38
NC_000007.13:g.44186207G>T , CM000669.1:g.44186207G>T	GRCh37
NC_000007.12:g.44152732G>T	NCBI36
NG_008847.1:g.47816C>A
NG_008847.2:g.56563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*872C>A	ENSP00000379142.4:n.*872C>A
ENST00000616242.5:c.864C>A	ENSP00000482149.2:p.Ser288Arg
ENST00000683378.1:n.100C>A
ENST00000345378.7:c.877C>A	ENSP00000223366.2:p.Leu293Ile
ENST00000403799.8:c.874C>A MANE Select	ENSP00000384247.3:p.Leu292Ile
ENST00000671824.1:c.937C>A	ENSP00000500264.1:p.Leu313Ile
ENST00000673284.1:c.874C>A	ENSP00000499852.1:p.Leu292Ile
ENST00000345378.6:c.877C>A	ENSP00000223366.2:p.Leu293Ile
ENST00000395796.7:c.871C>A	ENSP00000379142.3:p.Leu291Ile
ENST00000403799.7:c.874C>A	ENSP00000384247.3:p.Leu292Ile
ENST00000437084.1:c.823C>A	ENSP00000402840.1:p.Leu275Ile
ENST00000473353.1:n.172C>A
ENST00000616242.4:c.871C>A	ENSP00000482149.1:p.Leu291Ile
NM_000162.3:c.874C>A	NP_000153.1:p.Leu292Ile
NM_033507.1:c.877C>A	NP_277042.1:p.Leu293Ile
NM_033508.1:c.871C>A	NP_277043.1:p.Leu291Ile
NM_000162.4:c.874C>A	NP_000153.1:p.Leu292Ile
NM_001354800.1:c.874C>A	NP_001341729.1:p.Leu292Ile
NM_001354801.1:c.8+11C>A	NP_001341730.1:n.8+11C>A
NM_033507.2:c.877C>A	NP_277042.1:p.Leu293Ile
NM_033508.2:c.871C>A	NP_277043.1:p.Leu291Ile
NM_000162.5:c.874C>A MANE Select	NP_000153.1:p.Leu292Ile
NM_033507.3:c.877C>A	NP_277042.1:p.Leu293Ile
NM_033508.3:c.871C>A	NP_277043.1:p.Leu291Ile