Canonical Allele Identifier: CA4239371

Gene: GCK

Linked Data

• dbSNP Id: rs193922285
• ExAC: 7:44184747 C / T
• gnomAD v2: 7-44184747-C-T
• gnomAD v4: 7-44145148-C-T
• MyVariant Identifiers: chr7:g.44184747C>T (hg19) ; chr7:g.44145148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145148C>T , CM000669.2:g.44145148C>T	GRCh38
NC_000007.13:g.44184747C>T , CM000669.1:g.44184747C>T	GRCh37
NC_000007.12:g.44151272C>T	NCBI36
NG_008847.1:g.49276G>A
NG_008847.2:g.58023G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1384G>A	ENSP00000379142.4:n.*1384G>A
ENST00000616242.5:c.*506G>A	ENSP00000482149.2:n.*506G>A
ENST00000683378.1:n.612G>A
ENST00000336642.9:c.420G>A	ENSP00000338009.5:p.Met140Ile
ENST00000345378.7:c.1389G>A	ENSP00000223366.2:p.Met463Ile
ENST00000403799.8:c.1386G>A MANE Select	ENSP00000384247.3:p.Met462Ile
ENST00000671824.1:c.1449G>A	ENSP00000500264.1:p.Met483Ile
ENST00000672743.1:n.381+17G>A
ENST00000673284.1:c.1369+17G>A	ENSP00000499852.1:n.1369+17G>A
ENST00000336642.8:c.438G>A	ENSP00000338009.4:p.Met146Ile
ENST00000345378.6:c.1389G>A	ENSP00000223366.2:p.Met463Ile
ENST00000395796.7:c.1383G>A	ENSP00000379142.3:p.Met461Ile
ENST00000403799.7:c.1386G>A	ENSP00000384247.3:p.Met462Ile
ENST00000437084.1:c.1335G>A	ENSP00000402840.1:p.Met445Ile
ENST00000459642.1:n.766G>A
ENST00000616242.4:c.1383G>A	ENSP00000482149.1:p.Met461Ile
NM_000162.3:c.1386G>A	NP_000153.1:p.Met462Ile
NM_033507.1:c.1389G>A	NP_277042.1:p.Met463Ile
NM_033508.1:c.1383G>A	NP_277043.1:p.Met461Ile
NM_000162.4:c.1386G>A	NP_000153.1:p.Met462Ile
NM_001354800.1:c.1369+17G>A	NP_001341729.1:n.1369+17G>A
NM_001354801.1:c.375G>A	NP_001341730.1:p.Met125Ile
NM_001354802.1:c.229+17G>A	NP_001341731.1:n.229+17G>A
NM_001354803.1:c.420G>A	NP_001341732.1:p.Met140Ile
NM_033507.2:c.1389G>A	NP_277042.1:p.Met463Ile
NM_033508.2:c.1383G>A	NP_277043.1:p.Met461Ile
XM_024446707.1:c.246G>A	XP_024302475.1:p.Met82Ile
NM_000162.5:c.1386G>A MANE Select	NP_000153.1:p.Met462Ile
NM_033507.3:c.1389G>A	NP_277042.1:p.Met463Ile
NM_033508.3:c.1383G>A	NP_277043.1:p.Met461Ile
NM_001354803.2:c.420G>A	NP_001341732.1:p.Met140Ile