Canonical Allele Identifier: CA573798918
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1470988940
gnomAD v2: 7-44192645-C-T
gnomAD v3: 7-44153046-C-T
gnomAD v4: 7-44153046-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153046C>T , CM000669.2:g.44153046C>T GRCh38
NC_000007.13:g.44192645C>T , CM000669.1:g.44192645C>T GRCh37
NC_000007.12:g.44159170C>T NCBI36
NG_008847.1:g.41378G>A
NG_008847.2:g.50125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*206+255G>A ENSP00000379142.4:n.*206+255G>A
ENST00000616242.5:c.208+255G>A ENSP00000482149.2:n.208+255G>A
ENST00000682635.1:n.694+255G>A
ENST00000345378.7:c.211+255G>A ENSP00000223366.2:n.211+255G>A
ENST00000403799.8:c.208+255G>A MANE Select ENSP00000384247.3:n.208+255G>A
ENST00000671824.1:c.208+255G>A ENSP00000500264.1:n.208+255G>A
ENST00000673284.1:c.208+255G>A ENSP00000499852.1:n.208+255G>A
ENST00000345378.6:c.211+255G>A ENSP00000223366.2:n.211+255G>A
ENST00000395796.7:c.205+255G>A ENSP00000379142.3:n.205+255G>A
ENST00000403799.7:c.208+255G>A ENSP00000384247.3:n.208+255G>A
ENST00000437084.1:c.208+255G>A ENSP00000402840.1:n.208+255G>A
ENST00000616242.4:c.205+255G>A ENSP00000482149.1:n.205+255G>A
NM_000162.3:c.208+255G>A NP_000153.1:n.208+255G>A
NM_033507.1:c.211+255G>A NP_277042.1:n.211+255G>A
NM_033508.1:c.205+255G>A NP_277043.1:n.205+255G>A
NM_000162.4:c.208+255G>A NP_000153.1:n.208+255G>A
NM_001354800.1:c.208+255G>A NP_001341729.1:n.208+255G>A
NM_033507.2:c.211+255G>A NP_277042.1:n.211+255G>A
NM_033508.2:c.205+255G>A NP_277043.1:n.205+255G>A
NM_000162.5:c.208+255G>A MANE Select NP_000153.1:n.208+255G>A
NM_033507.3:c.211+255G>A NP_277042.1:n.211+255G>A
NM_033508.3:c.205+255G>A NP_277043.1:n.205+255G>A