Canonical Allele Identifier: CA367398802

Gene: GCK

Linked Data

• ClinVar Variation Id: 972776
• ClinVar RCV Id: RCV001248986 ; RCV001879746 ; RCV003325991
• dbSNP Id: rs193929374
• gnomAD v2: 7-44185216-G-C
• gnomAD v4: 7-44145617-G-C
• MyVariant Identifiers: chr7:g.44185216G>C (hg19) ; chr7:g.44145617G>C (hg38)
• ERepo: CA367398802/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145617G>C , CM000669.2:g.44145617G>C	GRCh38
NC_000007.13:g.44185216G>C , CM000669.1:g.44185216G>C	GRCh37
NC_000007.12:g.44151741G>C	NCBI36
NG_008847.1:g.48807C>G
NG_008847.2:g.57554C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1131C>G	ENSP00000379142.4:n.*1131C>G
ENST00000616242.5:c.*253C>G	ENSP00000482149.2:n.*253C>G
ENST00000683378.1:n.359C>G
ENST00000336642.9:c.167C>G	ENSP00000338009.5:p.Ala56Gly
ENST00000345378.7:c.1136C>G	ENSP00000223366.2:p.Ala379Gly
ENST00000403799.8:c.1133C>G MANE Select	ENSP00000384247.3:p.Ala378Gly
ENST00000671824.1:c.1196C>G	ENSP00000500264.1:p.Ala399Gly
ENST00000672743.1:n.145C>G
ENST00000673284.1:c.1133C>G	ENSP00000499852.1:p.Ala378Gly
ENST00000336642.8:c.185C>G	ENSP00000338009.4:p.Ala62Gly
ENST00000345378.6:c.1136C>G	ENSP00000223366.2:p.Ala379Gly
ENST00000395796.7:c.1130C>G	ENSP00000379142.3:p.Ala377Gly
ENST00000403799.7:c.1133C>G	ENSP00000384247.3:p.Ala378Gly
ENST00000437084.1:c.1082C>G	ENSP00000402840.1:p.Ala361Gly
ENST00000459642.1:n.513C>G
ENST00000616242.4:c.1130C>G	ENSP00000482149.1:p.Ala377Gly
NM_000162.3:c.1133C>G	NP_000153.1:p.Ala378Gly
NM_033507.1:c.1136C>G	NP_277042.1:p.Ala379Gly
NM_033508.1:c.1130C>G	NP_277043.1:p.Ala377Gly
NM_000162.4:c.1133C>G	NP_000153.1:p.Ala378Gly
NM_001354800.1:c.1133C>G	NP_001341729.1:p.Ala378Gly
NM_001354801.1:c.122C>G	NP_001341730.1:p.Ala41Gly
NM_001354802.1:c.-8C>G	NP_001341731.1:n.-8C>G
NM_001354803.1:c.167C>G	NP_001341732.1:p.Ala56Gly
NM_033507.2:c.1136C>G	NP_277042.1:p.Ala379Gly
NM_033508.2:c.1130C>G	NP_277043.1:p.Ala377Gly
XM_024446707.1:c.-8C>G	XP_024302475.1:n.-8C>G
NM_000162.5:c.1133C>G MANE Select	NP_000153.1:p.Ala378Gly
NM_033507.3:c.1136C>G	NP_277042.1:p.Ala379Gly
NM_033508.3:c.1130C>G	NP_277043.1:p.Ala377Gly
NM_001354803.2:c.167C>G	NP_001341732.1:p.Ala56Gly