Canonical Allele Identifier: CA367397017

Gene: GCK

Linked Data

• ClinVar Variation Id: 1320655
• ClinVar RCV Id: RCV001776634 ; RCV003313230 ; RCV003401708
• dbSNP Id: rs1286804191
• MyVariant Identifiers: chr7:g.44184811G>C (hg19) ; chr7:g.44145212G>C (hg38)
• ERepo: CA367397017/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145212G>C , CM000669.2:g.44145212G>C	GRCh38
NC_000007.13:g.44184811G>C , CM000669.1:g.44184811G>C	GRCh37
NC_000007.12:g.44151336G>C	NCBI36
NG_008847.1:g.49212C>G
NG_008847.2:g.57959C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1320C>G	ENSP00000379142.4:n.*1320C>G
ENST00000616242.5:c.*442C>G	ENSP00000482149.2:n.*442C>G
ENST00000683378.1:n.548C>G
ENST00000336642.9:c.356C>G	ENSP00000338009.5:p.Ser119Trp
ENST00000345378.7:c.1325C>G	ENSP00000223366.2:p.Ser442Trp
ENST00000403799.8:c.1322C>G MANE Select	ENSP00000384247.3:p.Ser441Trp
ENST00000671824.1:c.1385C>G	ENSP00000500264.1:p.Ser462Trp
ENST00000672743.1:n.334C>G
ENST00000673284.1:c.1322C>G	ENSP00000499852.1:p.Ser441Trp
ENST00000336642.8:c.374C>G	ENSP00000338009.4:p.Ser125Trp
ENST00000345378.6:c.1325C>G	ENSP00000223366.2:p.Ser442Trp
ENST00000395796.7:c.1319C>G	ENSP00000379142.3:p.Ser440Trp
ENST00000403799.7:c.1322C>G	ENSP00000384247.3:p.Ser441Trp
ENST00000437084.1:c.1271C>G	ENSP00000402840.1:p.Ser424Trp
ENST00000459642.1:n.702C>G
ENST00000616242.4:c.1319C>G	ENSP00000482149.1:p.Ser440Trp
NM_000162.3:c.1322C>G	NP_000153.1:p.Ser441Trp
NM_033507.1:c.1325C>G	NP_277042.1:p.Ser442Trp
NM_033508.1:c.1319C>G	NP_277043.1:p.Ser440Trp
NM_000162.4:c.1322C>G	NP_000153.1:p.Ser441Trp
NM_001354800.1:c.1322C>G	NP_001341729.1:p.Ser441Trp
NM_001354801.1:c.311C>G	NP_001341730.1:p.Ser104Trp
NM_001354802.1:c.182C>G	NP_001341731.1:p.Ser61Trp
NM_001354803.1:c.356C>G	NP_001341732.1:p.Ser119Trp
NM_033507.2:c.1325C>G	NP_277042.1:p.Ser442Trp
NM_033508.2:c.1319C>G	NP_277043.1:p.Ser440Trp
XM_024446707.1:c.182C>G	XP_024302475.1:p.Ser61Trp
NM_000162.5:c.1322C>G MANE Select	NP_000153.1:p.Ser441Trp
NM_033507.3:c.1325C>G	NP_277042.1:p.Ser442Trp
NM_033508.3:c.1319C>G	NP_277043.1:p.Ser440Trp
NM_001354803.2:c.356C>G	NP_001341732.1:p.Ser119Trp