Canonical Allele Identifier: CA367396980

Gene: GCK

Linked Data

• ClinVar Variation Id: 2664359
• ClinVar RCV Id: RCV003445457 ; RCV003479521 ; RCV003689088
• dbSNP Id: rs2096270533
• gnomAD v4: 7-44145203-C-T
• MyVariant Identifiers: chr7:g.44184802C>T (hg19) ; chr7:g.44145203C>T (hg38)
• ERepo: CA367396980/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145203C>T , CM000669.2:g.44145203C>T	GRCh38
NC_000007.13:g.44184802C>T , CM000669.1:g.44184802C>T	GRCh37
NC_000007.12:g.44151327C>T	NCBI36
NG_008847.1:g.49221G>A
NG_008847.2:g.57968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1329G>A	ENSP00000379142.4:n.*1329G>A
ENST00000616242.5:c.*451G>A	ENSP00000482149.2:n.*451G>A
ENST00000683378.1:n.557G>A
ENST00000336642.9:c.365G>A	ENSP00000338009.5:p.Gly122Asp
ENST00000345378.7:c.1334G>A	ENSP00000223366.2:p.Gly445Asp
ENST00000403799.8:c.1331G>A MANE Select	ENSP00000384247.3:p.Gly444Asp
ENST00000671824.1:c.1394G>A	ENSP00000500264.1:p.Gly465Asp
ENST00000672743.1:n.343G>A
ENST00000673284.1:c.1331G>A	ENSP00000499852.1:p.Gly444Asp
ENST00000336642.8:c.383G>A	ENSP00000338009.4:p.Gly128Asp
ENST00000345378.6:c.1334G>A	ENSP00000223366.2:p.Gly445Asp
ENST00000395796.7:c.1328G>A	ENSP00000379142.3:p.Gly443Asp
ENST00000403799.7:c.1331G>A	ENSP00000384247.3:p.Gly444Asp
ENST00000437084.1:c.1280G>A	ENSP00000402840.1:p.Gly427Asp
ENST00000459642.1:n.711G>A
ENST00000616242.4:c.1328G>A	ENSP00000482149.1:p.Gly443Asp
NM_000162.3:c.1331G>A	NP_000153.1:p.Gly444Asp
NM_033507.1:c.1334G>A	NP_277042.1:p.Gly445Asp
NM_033508.1:c.1328G>A	NP_277043.1:p.Gly443Asp
NM_000162.4:c.1331G>A	NP_000153.1:p.Gly444Asp
NM_001354800.1:c.1331G>A	NP_001341729.1:p.Gly444Asp
NM_001354801.1:c.320G>A	NP_001341730.1:p.Gly107Asp
NM_001354802.1:c.191G>A	NP_001341731.1:p.Gly64Asp
NM_001354803.1:c.365G>A	NP_001341732.1:p.Gly122Asp
NM_033507.2:c.1334G>A	NP_277042.1:p.Gly445Asp
NM_033508.2:c.1328G>A	NP_277043.1:p.Gly443Asp
XM_024446707.1:c.191G>A	XP_024302475.1:p.Gly64Asp
NM_000162.5:c.1331G>A MANE Select	NP_000153.1:p.Gly444Asp
NM_033507.3:c.1334G>A	NP_277042.1:p.Gly445Asp
NM_033508.3:c.1328G>A	NP_277043.1:p.Gly443Asp
NM_001354803.2:c.365G>A	NP_001341732.1:p.Gly122Asp