Canonical Allele Identifier: CA838788567
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1385891396
gnomAD v3: 7-44144992-C-T
gnomAD v4: 7-44144992-C-T
MyVariant Identifiers: chr7:g.44184591C>T (hg19) chr7:g.44144992C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144992C>T , CM000669.2:g.44144992C>T GRCh38
NC_000007.13:g.44184591C>T , CM000669.1:g.44184591C>T GRCh37
NC_000007.12:g.44151116C>T NCBI36
NG_008847.1:g.49432G>A
NG_008847.2:g.58179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1540G>A ENSP00000379142.4:n.*1540G>A
ENST00000616242.5:c.*662G>A ENSP00000482149.2:n.*662G>A
ENST00000683378.1:n.768G>A
ENST00000336642.9:c.*144G>A ENSP00000338009.5:n.*144G>A
ENST00000345378.7:c.*144G>A ENSP00000223366.2:n.*144G>A
ENST00000403799.8:c.*144G>A MANE Select ENSP00000384247.3:n.*144G>A
ENST00000671824.1:c.*144G>A ENSP00000500264.1:n.*144G>A
ENST00000672743.1:n.381+173G>A
ENST00000673284.1:c.1369+173G>A ENSP00000499852.1:n.1369+173G>A
ENST00000336642.8:c.594G>A ENSP00000338009.4:n.594G>A
ENST00000345378.6:c.*144G>A ENSP00000223366.2:n.*144G>A
ENST00000395796.7:c.*144G>A ENSP00000379142.3:n.*144G>A
ENST00000403799.7:c.*144G>A ENSP00000384247.3:n.*144G>A
ENST00000459642.1:n.922G>A
ENST00000616242.4:c.1539G>A ENSP00000482149.1:n.1539G>A
NM_000162.3:c.*144G>A NP_000153.1:n.*144G>A
NM_033507.1:c.*144G>A NP_277042.1:n.*144G>A
NM_033508.1:c.*144G>A NP_277043.1:n.*144G>A
NM_000162.4:c.*144G>A NP_000153.1:n.*144G>A
NM_001354800.1:c.1369+173G>A NP_001341729.1:n.1369+173G>A
NM_001354801.1:c.*144G>A NP_001341730.1:n.*144G>A
NM_001354802.1:c.229+173G>A NP_001341731.1:n.229+173G>A
NM_001354803.1:c.*144G>A NP_001341732.1:n.*144G>A
NM_033507.2:c.*144G>A NP_277042.1:n.*144G>A
NM_033508.2:c.*144G>A NP_277043.1:n.*144G>A
XM_024446707.1:c.*144G>A XP_024302475.1:n.*144G>A
NM_000162.5:c.*144G>A MANE Select NP_000153.1:n.*144G>A
NM_033507.3:c.*144G>A NP_277042.1:n.*144G>A
NM_033508.3:c.*144G>A NP_277043.1:n.*144G>A
NM_001354803.2:c.*144G>A NP_001341732.1:n.*144G>A
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