Canonical Allele Identifier: CA367397046

Gene: GCK

Linked Data

• gnomAD v4: 7-44145218-A-G
• MyVariant Identifiers: chr7:g.44184817A>G (hg19) ; chr7:g.44145218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145218A>G , CM000669.2:g.44145218A>G	GRCh38
NC_000007.13:g.44184817A>G , CM000669.1:g.44184817A>G	GRCh37
NC_000007.12:g.44151342A>G	NCBI36
NG_008847.1:g.49206T>C
NG_008847.2:g.57953T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1314T>C	ENSP00000379142.4:n.*1314T>C
ENST00000616242.5:c.*436T>C	ENSP00000482149.2:n.*436T>C
ENST00000683378.1:n.542T>C
ENST00000336642.9:c.350T>C	ENSP00000338009.5:p.Ile117Thr
ENST00000345378.7:c.1319T>C	ENSP00000223366.2:p.Ile440Thr
ENST00000403799.8:c.1316T>C MANE Select	ENSP00000384247.3:p.Ile439Thr
ENST00000671824.1:c.1379T>C	ENSP00000500264.1:p.Ile460Thr
ENST00000672743.1:n.328T>C
ENST00000673284.1:c.1316T>C	ENSP00000499852.1:p.Ile439Thr
ENST00000336642.8:c.368T>C	ENSP00000338009.4:p.Ile123Thr
ENST00000345378.6:c.1319T>C	ENSP00000223366.2:p.Ile440Thr
ENST00000395796.7:c.1313T>C	ENSP00000379142.3:p.Ile438Thr
ENST00000403799.7:c.1316T>C	ENSP00000384247.3:p.Ile439Thr
ENST00000437084.1:c.1265T>C	ENSP00000402840.1:p.Ile422Thr
ENST00000459642.1:n.696T>C
ENST00000616242.4:c.1313T>C	ENSP00000482149.1:p.Ile438Thr
NM_000162.3:c.1316T>C	NP_000153.1:p.Ile439Thr
NM_033507.1:c.1319T>C	NP_277042.1:p.Ile440Thr
NM_033508.1:c.1313T>C	NP_277043.1:p.Ile438Thr
NM_000162.4:c.1316T>C	NP_000153.1:p.Ile439Thr
NM_001354800.1:c.1316T>C	NP_001341729.1:p.Ile439Thr
NM_001354801.1:c.305T>C	NP_001341730.1:p.Ile102Thr
NM_001354802.1:c.176T>C	NP_001341731.1:p.Ile59Thr
NM_001354803.1:c.350T>C	NP_001341732.1:p.Ile117Thr
NM_033507.2:c.1319T>C	NP_277042.1:p.Ile440Thr
NM_033508.2:c.1313T>C	NP_277043.1:p.Ile438Thr
XM_024446707.1:c.176T>C	XP_024302475.1:p.Ile59Thr
NM_000162.5:c.1316T>C MANE Select	NP_000153.1:p.Ile439Thr
NM_033507.3:c.1319T>C	NP_277042.1:p.Ile440Thr
NM_033508.3:c.1313T>C	NP_277043.1:p.Ile438Thr
NM_001354803.2:c.350T>C	NP_001341732.1:p.Ile117Thr