Canonical Allele Identifier: CA367398928

Gene: GCK

Linked Data

• ClinVar Variation Id: 447379
• ClinVar RCV Id: RCV000516323 ; RCV003325960
• dbSNP Id: rs556581174
• MyVariant Identifiers: chr7:g.44185236G>C (hg19) ; chr7:g.44145637G>C (hg38)
• PubMed: PMID:19790256
• ERepo: CA367398928/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145637G>C , CM000669.2:g.44145637G>C	GRCh38
NC_000007.13:g.44185236G>C , CM000669.1:g.44185236G>C	GRCh37
NC_000007.12:g.44151761G>C	NCBI36
NG_008847.1:g.48787C>G
NG_008847.2:g.57534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1111C>G	ENSP00000379142.4:n.*1111C>G
ENST00000616242.5:c.*233C>G	ENSP00000482149.2:n.*233C>G
ENST00000683378.1:n.339C>G
ENST00000336642.9:c.147C>G	ENSP00000338009.5:p.Cys49Trp
ENST00000345378.7:c.1116C>G	ENSP00000223366.2:p.Cys372Trp
ENST00000403799.8:c.1113C>G MANE Select	ENSP00000384247.3:p.Cys371Trp
ENST00000671824.1:c.1176C>G	ENSP00000500264.1:p.Cys392Trp
ENST00000672743.1:n.125C>G
ENST00000673284.1:c.1113C>G	ENSP00000499852.1:p.Cys371Trp
ENST00000336642.8:c.165C>G	ENSP00000338009.4:p.Cys55Trp
ENST00000345378.6:c.1116C>G	ENSP00000223366.2:p.Cys372Trp
ENST00000395796.7:c.1110C>G	ENSP00000379142.3:p.Cys370Trp
ENST00000403799.7:c.1113C>G	ENSP00000384247.3:p.Cys371Trp
ENST00000437084.1:c.1062C>G	ENSP00000402840.1:p.Cys354Trp
ENST00000459642.1:n.493C>G
ENST00000616242.4:c.1110C>G	ENSP00000482149.1:p.Cys370Trp
NM_000162.3:c.1113C>G	NP_000153.1:p.Cys371Trp
NM_033507.1:c.1116C>G	NP_277042.1:p.Cys372Trp
NM_033508.1:c.1110C>G	NP_277043.1:p.Cys370Trp
NM_000162.4:c.1113C>G	NP_000153.1:p.Cys371Trp
NM_001354800.1:c.1113C>G	NP_001341729.1:p.Cys371Trp
NM_001354801.1:c.102C>G	NP_001341730.1:p.Cys34Trp
NM_001354802.1:c.-28C>G	NP_001341731.1:n.-28C>G
NM_001354803.1:c.147C>G	NP_001341732.1:p.Cys49Trp
NM_033507.2:c.1116C>G	NP_277042.1:p.Cys372Trp
NM_033508.2:c.1110C>G	NP_277043.1:p.Cys370Trp
XM_024446707.1:c.-28C>G	XP_024302475.1:n.-28C>G
NM_000162.5:c.1113C>G MANE Select	NP_000153.1:p.Cys371Trp
NM_033507.3:c.1116C>G	NP_277042.1:p.Cys372Trp
NM_033508.3:c.1110C>G	NP_277043.1:p.Cys370Trp
NM_001354803.2:c.147C>G	NP_001341732.1:p.Cys49Trp