Canonical Allele Identifier: CA367397086

Gene: GCK

Linked Data

• ClinVar Variation Id: 997872
• ClinVar RCV Id: RCV001293492 ; RCV002463808
• dbSNP Id: rs2096270595
• MyVariant Identifiers: chr7:g.44184824T>G (hg19) ; chr7:g.44145225T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145225T>G , CM000669.2:g.44145225T>G	GRCh38
NC_000007.13:g.44184824T>G , CM000669.1:g.44184824T>G	GRCh37
NC_000007.12:g.44151349T>G	NCBI36
NG_008847.1:g.49199A>C
NG_008847.2:g.57946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1307A>C	ENSP00000379142.4:n.*1307A>C
ENST00000616242.5:c.*429A>C	ENSP00000482149.2:n.*429A>C
ENST00000683378.1:n.535A>C
ENST00000336642.9:c.343A>C	ENSP00000338009.5:p.Thr115Pro
ENST00000345378.7:c.1312A>C	ENSP00000223366.2:p.Thr438Pro
ENST00000403799.8:c.1309A>C MANE Select	ENSP00000384247.3:p.Thr437Pro
ENST00000671824.1:c.1372A>C	ENSP00000500264.1:p.Thr458Pro
ENST00000672743.1:n.321A>C
ENST00000673284.1:c.1309A>C	ENSP00000499852.1:p.Thr437Pro
ENST00000336642.8:c.361A>C	ENSP00000338009.4:p.Thr121Pro
ENST00000345378.6:c.1312A>C	ENSP00000223366.2:p.Thr438Pro
ENST00000395796.7:c.1306A>C	ENSP00000379142.3:p.Thr436Pro
ENST00000403799.7:c.1309A>C	ENSP00000384247.3:p.Thr437Pro
ENST00000437084.1:c.1258A>C	ENSP00000402840.1:p.Thr420Pro
ENST00000459642.1:n.689A>C
ENST00000616242.4:c.1306A>C	ENSP00000482149.1:p.Thr436Pro
NM_000162.3:c.1309A>C	NP_000153.1:p.Thr437Pro
NM_033507.1:c.1312A>C	NP_277042.1:p.Thr438Pro
NM_033508.1:c.1306A>C	NP_277043.1:p.Thr436Pro
NM_000162.4:c.1309A>C	NP_000153.1:p.Thr437Pro
NM_001354800.1:c.1309A>C	NP_001341729.1:p.Thr437Pro
NM_001354801.1:c.298A>C	NP_001341730.1:p.Thr100Pro
NM_001354802.1:c.169A>C	NP_001341731.1:p.Thr57Pro
NM_001354803.1:c.343A>C	NP_001341732.1:p.Thr115Pro
NM_033507.2:c.1312A>C	NP_277042.1:p.Thr438Pro
NM_033508.2:c.1306A>C	NP_277043.1:p.Thr436Pro
XM_024446707.1:c.169A>C	XP_024302475.1:p.Thr57Pro
NM_000162.5:c.1309A>C MANE Select	NP_000153.1:p.Thr437Pro
NM_033507.3:c.1312A>C	NP_277042.1:p.Thr438Pro
NM_033508.3:c.1306A>C	NP_277043.1:p.Thr436Pro
NM_001354803.2:c.343A>C	NP_001341732.1:p.Thr115Pro