Canonical Allele Identifier: CA213711

Gene: GCK

Linked Data

• ClinVar Variation Id: 36174
• ClinVar RCV Id: RCV000029837 ; RCV003493415
• dbSNP Id: rs193922262
• gnomAD v4: 7-44145636-C-A
• MyVariant Identifiers: chr7:g.44185235C>A (hg19) ; chr7:g.44145636C>A (hg38)
• ERepo: CA213711/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145636C>A , CM000669.2:g.44145636C>A	GRCh38
NC_000007.13:g.44185235C>A , CM000669.1:g.44185235C>A	GRCh37
NC_000007.12:g.44151760C>A	NCBI36
NG_008847.1:g.48788G>T
NG_008847.2:g.57535G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1112G>T	ENSP00000379142.4:n.*1112G>T
ENST00000616242.5:c.*234G>T	ENSP00000482149.2:n.*234G>T
ENST00000683378.1:n.340G>T
ENST00000336642.9:c.148G>T	ENSP00000338009.5:p.Glu50Ter
ENST00000345378.7:c.1117G>T	ENSP00000223366.2:p.Glu373Ter
ENST00000403799.8:c.1114G>T MANE Select	ENSP00000384247.3:p.Glu372Ter
ENST00000671824.1:c.1177G>T	ENSP00000500264.1:p.Glu393Ter
ENST00000672743.1:n.126G>T
ENST00000673284.1:c.1114G>T	ENSP00000499852.1:p.Glu372Ter
ENST00000336642.8:c.166G>T	ENSP00000338009.4:p.Glu56Ter
ENST00000345378.6:c.1117G>T	ENSP00000223366.2:p.Glu373Ter
ENST00000395796.7:c.1111G>T	ENSP00000379142.3:p.Glu371Ter
ENST00000403799.7:c.1114G>T	ENSP00000384247.3:p.Glu372Ter
ENST00000437084.1:c.1063G>T	ENSP00000402840.1:p.Glu355Ter
ENST00000459642.1:n.494G>T
ENST00000616242.4:c.1111G>T	ENSP00000482149.1:p.Glu371Ter
NM_000162.3:c.1114G>T	NP_000153.1:p.Glu372Ter
NM_033507.1:c.1117G>T	NP_277042.1:p.Glu373Ter
NM_033508.1:c.1111G>T	NP_277043.1:p.Glu371Ter
NM_000162.4:c.1114G>T	NP_000153.1:p.Glu372Ter
NM_001354800.1:c.1114G>T	NP_001341729.1:p.Glu372Ter
NM_001354801.1:c.103G>T	NP_001341730.1:p.Glu35Ter
NM_001354802.1:c.-27G>T	NP_001341731.1:n.-27G>T
NM_001354803.1:c.148G>T	NP_001341732.1:p.Glu50Ter
NM_033507.2:c.1117G>T	NP_277042.1:p.Glu373Ter
NM_033508.2:c.1111G>T	NP_277043.1:p.Glu371Ter
XM_024446707.1:c.-27G>T	XP_024302475.1:n.-27G>T
NM_000162.5:c.1114G>T MANE Select	NP_000153.1:p.Glu372Ter
NM_033507.3:c.1117G>T	NP_277042.1:p.Glu373Ter
NM_033508.3:c.1111G>T	NP_277043.1:p.Glu371Ter
NM_001354803.2:c.148G>T	NP_001341732.1:p.Glu50Ter