Canonical Allele Identifier: CA4239720

Gene: GCK

Linked Data

• ClinVar Variation Id: 431973
• ClinVar RCV Id: RCV000497478 ; RCV000503648 ; RCV000788107 ; RCV003403150
• dbSNP Id: rs762263694
• ExAC: 7:44193002 G / A
• gnomAD v2: 7-44193002-G-A
• gnomAD v3: 7-44153403-G-A
• gnomAD v4: 7-44153403-G-A
• COSMIC: COSM3881222 ; COSM3881223 ; COSM3881224
• MyVariant Identifiers: chr7:g.44193002G>A (hg19) ; chr7:g.44153403G>A (hg38)
• PubMed: PMID:8068341 ; PMID:8168652 ; PMID:10426385 ; PMID:11508276 ; PMID:12955723 ; PMID:16602010 ; PMID:16965331 ; PMID:17573900 ; PMID:21348868 ; PMID:21521320 ; PMID:22540858 ; PMID:23433541 ; PMID:24097065 ; PMID:24918535 ; PMID:25555642 ; PMID:27935851 ; PMID:28012402
• ERepo: CA4239720/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153403G>A , CM000669.2:g.44153403G>A	GRCh38
NC_000007.13:g.44193002G>A , CM000669.1:g.44193002G>A	GRCh37
NC_000007.12:g.44159527G>A	NCBI36
NG_008847.1:g.41021C>T
NG_008847.2:g.49768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*104C>T	ENSP00000379142.4:n.*104C>T
ENST00000616242.5:c.106C>T	ENSP00000482149.2:p.Arg36Trp
ENST00000682635.1:n.592C>T
ENST00000345378.7:c.109C>T	ENSP00000223366.2:p.Arg37Trp
ENST00000403799.8:c.106C>T MANE Select	ENSP00000384247.3:p.Arg36Trp
ENST00000671824.1:c.106C>T	ENSP00000500264.1:p.Arg36Trp
ENST00000673284.1:c.106C>T	ENSP00000499852.1:p.Arg36Trp
ENST00000345378.6:c.109C>T	ENSP00000223366.2:p.Arg37Trp
ENST00000395796.7:c.103C>T	ENSP00000379142.3:p.Arg35Trp
ENST00000403799.7:c.106C>T	ENSP00000384247.3:p.Arg36Trp
ENST00000437084.1:c.106C>T	ENSP00000402840.1:p.Arg36Trp
ENST00000476008.1:n.541C>T
ENST00000616242.4:c.103C>T	ENSP00000482149.1:p.Arg35Trp
NM_000162.3:c.106C>T	NP_000153.1:p.Arg36Trp
NM_033507.1:c.109C>T	NP_277042.1:p.Arg37Trp
NM_033508.1:c.103C>T	NP_277043.1:p.Arg35Trp
NM_000162.4:c.106C>T	NP_000153.1:p.Arg36Trp
NM_001354800.1:c.106C>T	NP_001341729.1:p.Arg36Trp
NM_033507.2:c.109C>T	NP_277042.1:p.Arg37Trp
NM_033508.2:c.103C>T	NP_277043.1:p.Arg35Trp
NM_000162.5:c.106C>T MANE Select	NP_000153.1:p.Arg36Trp
NM_033507.3:c.109C>T	NP_277042.1:p.Arg37Trp
NM_033508.3:c.103C>T	NP_277043.1:p.Arg35Trp