Canonical Allele Identifier: CA454863219
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1342518369
gnomAD v2: 7-44185191-C-T
MyVariant Identifiers: chr7:g.44185191C>T (hg19) chr7:g.44145592C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145592C>T , CM000669.2:g.44145592C>T GRCh38
NC_000007.13:g.44185191C>T , CM000669.1:g.44185191C>T GRCh37
NC_000007.12:g.44151716C>T NCBI36
NG_008847.1:g.48832G>A
NG_008847.2:g.57579G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1156G>A ENSP00000379142.4:n.*1156G>A
ENST00000616242.5:c.*278G>A ENSP00000482149.2:n.*278G>A
ENST00000683378.1:n.384G>A
ENST00000336642.9:c.192G>A ENSP00000338009.5:p.Leu64=
ENST00000345378.7:c.1161G>A ENSP00000223366.2:p.Leu387=
ENST00000403799.8:c.1158G>A MANE Select ENSP00000384247.3:p.Leu386=
ENST00000671824.1:c.1221G>A ENSP00000500264.1:p.Leu407=
ENST00000672743.1:n.170G>A
ENST00000673284.1:c.1158G>A ENSP00000499852.1:p.Leu386=
ENST00000336642.8:c.210G>A ENSP00000338009.4:p.Leu70=
ENST00000345378.6:c.1161G>A ENSP00000223366.2:p.Leu387=
ENST00000395796.7:c.1155G>A ENSP00000379142.3:p.Leu385=
ENST00000403799.7:c.1158G>A ENSP00000384247.3:p.Leu386=
ENST00000437084.1:c.1107G>A ENSP00000402840.1:p.Leu369=
ENST00000459642.1:n.538G>A
ENST00000616242.4:c.1155G>A ENSP00000482149.1:p.Leu385=
NM_000162.3:c.1158G>A NP_000153.1:p.Leu386=
NM_033507.1:c.1161G>A NP_277042.1:p.Leu387=
NM_033508.1:c.1155G>A NP_277043.1:p.Leu385=
NM_000162.4:c.1158G>A NP_000153.1:p.Leu386=
NM_001354800.1:c.1158G>A NP_001341729.1:p.Leu386=
NM_001354801.1:c.147G>A NP_001341730.1:p.Leu49=
NM_001354802.1:c.18G>A NP_001341731.1:p.Leu6=
NM_001354803.1:c.192G>A NP_001341732.1:p.Leu64=
NM_033507.2:c.1161G>A NP_277042.1:p.Leu387=
NM_033508.2:c.1155G>A NP_277043.1:p.Leu385=
XM_024446707.1:c.18G>A XP_024302475.1:p.Leu6=
NM_000162.5:c.1158G>A MANE Select NP_000153.1:p.Leu386=
NM_033507.3:c.1161G>A NP_277042.1:p.Leu387=
NM_033508.3:c.1155G>A NP_277043.1:p.Leu385=
NM_001354803.2:c.192G>A NP_001341732.1:p.Leu64=
Search 100 bp 5'
Search 100 bp 3'