Canonical Allele Identifier: CA213854
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36259
ClinVar RCV Id: RCV000029922 RCV002463612
dbSNP Id: rs193922332
MyVariant Identifiers: chr7:g.44187300A>G (hg19) chr7:g.44147701A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147701A>G , CM000669.2:g.44147701A>G GRCh38
NC_000007.13:g.44187300A>G , CM000669.1:g.44187300A>G GRCh37
NC_000007.12:g.44153825A>G NCBI36
NG_008847.1:g.46723T>C
NG_008847.2:g.55470T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*810T>C ENSP00000379142.4:n.*810T>C
ENST00000616242.5:c.812T>C ENSP00000482149.2:p.Leu271Pro
ENST00000345378.7:c.815T>C ENSP00000223366.2:p.Leu272Pro
ENST00000403799.8:c.812T>C MANE Select ENSP00000384247.3:p.Leu271Pro
ENST00000671824.1:c.812T>C ENSP00000500264.1:p.Leu271Pro
ENST00000673284.1:c.812T>C ENSP00000499852.1:p.Leu271Pro
ENST00000345378.6:c.815T>C ENSP00000223366.2:p.Leu272Pro
ENST00000395796.7:c.809T>C ENSP00000379142.3:p.Leu270Pro
ENST00000403799.7:c.812T>C ENSP00000384247.3:p.Leu271Pro
ENST00000437084.1:c.761T>C ENSP00000402840.1:p.Leu254Pro
ENST00000616242.4:c.809T>C ENSP00000482149.1:p.Leu270Pro
NM_000162.3:c.812T>C NP_000153.1:p.Leu271Pro
NM_033507.1:c.815T>C NP_277042.1:p.Leu272Pro
NM_033508.1:c.809T>C NP_277043.1:p.Leu270Pro
XR_927223.1:n.35A>G
NM_000162.4:c.812T>C NP_000153.1:p.Leu271Pro
NM_001354800.1:c.812T>C NP_001341729.1:p.Leu271Pro
NM_033507.2:c.815T>C NP_277042.1:p.Leu272Pro
NM_033508.2:c.809T>C NP_277043.1:p.Leu270Pro
XR_927223.2:n.35A>G
NM_000162.5:c.812T>C MANE Select NP_000153.1:p.Leu271Pro
NM_033507.3:c.815T>C NP_277042.1:p.Leu272Pro
NM_033508.3:c.809T>C NP_277043.1:p.Leu270Pro
Search 100 bp 5'
Search 100 bp 3'