Canonical Allele Identifier: CA367397094

Gene: GCK

Linked Data

• ClinVar Variation Id: 2691824
• ClinVar RCV Id: RCV003494021
• gnomAD v4: 7-44145228-T-A
• MyVariant Identifiers: chr7:g.44184827T>A (hg19) ; chr7:g.44145228T>A (hg38)
• ERepo: CA367397094/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145228T>A , CM000669.2:g.44145228T>A	GRCh38
NC_000007.13:g.44184827T>A , CM000669.1:g.44184827T>A	GRCh37
NC_000007.12:g.44151352T>A	NCBI36
NG_008847.1:g.49196A>T
NG_008847.2:g.57943A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1304A>T	ENSP00000379142.4:n.*1304A>T
ENST00000616242.5:c.*426A>T	ENSP00000482149.2:n.*426A>T
ENST00000683378.1:n.532A>T
ENST00000336642.9:c.340A>T	ENSP00000338009.5:p.Ile114Phe
ENST00000345378.7:c.1309A>T	ENSP00000223366.2:p.Ile437Phe
ENST00000403799.8:c.1306A>T MANE Select	ENSP00000384247.3:p.Ile436Phe
ENST00000671824.1:c.1369A>T	ENSP00000500264.1:p.Ile457Phe
ENST00000672743.1:n.318A>T
ENST00000673284.1:c.1306A>T	ENSP00000499852.1:p.Ile436Phe
ENST00000336642.8:c.358A>T	ENSP00000338009.4:p.Ile120Phe
ENST00000345378.6:c.1309A>T	ENSP00000223366.2:p.Ile437Phe
ENST00000395796.7:c.1303A>T	ENSP00000379142.3:p.Ile435Phe
ENST00000403799.7:c.1306A>T	ENSP00000384247.3:p.Ile436Phe
ENST00000437084.1:c.1255A>T	ENSP00000402840.1:p.Ile419Phe
ENST00000459642.1:n.686A>T
ENST00000616242.4:c.1303A>T	ENSP00000482149.1:p.Ile435Phe
NM_000162.3:c.1306A>T	NP_000153.1:p.Ile436Phe
NM_033507.1:c.1309A>T	NP_277042.1:p.Ile437Phe
NM_033508.1:c.1303A>T	NP_277043.1:p.Ile435Phe
NM_000162.4:c.1306A>T	NP_000153.1:p.Ile436Phe
NM_001354800.1:c.1306A>T	NP_001341729.1:p.Ile436Phe
NM_001354801.1:c.295A>T	NP_001341730.1:p.Ile99Phe
NM_001354802.1:c.166A>T	NP_001341731.1:p.Ile56Phe
NM_001354803.1:c.340A>T	NP_001341732.1:p.Ile114Phe
NM_033507.2:c.1309A>T	NP_277042.1:p.Ile437Phe
NM_033508.2:c.1303A>T	NP_277043.1:p.Ile435Phe
XM_024446707.1:c.166A>T	XP_024302475.1:p.Ile56Phe
NM_000162.5:c.1306A>T MANE Select	NP_000153.1:p.Ile436Phe
NM_033507.3:c.1309A>T	NP_277042.1:p.Ile437Phe
NM_033508.3:c.1303A>T	NP_277043.1:p.Ile435Phe
NM_001354803.2:c.340A>T	NP_001341732.1:p.Ile114Phe