Canonical Allele Identifier: CA367401543
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44149980-T-G
MyVariant Identifiers: chr7:g.44189579T>G (hg19) chr7:g.44149980T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149980T>G , CM000669.2:g.44149980T>G GRCh38
NC_000007.13:g.44189579T>G , CM000669.1:g.44189579T>G GRCh37
NC_000007.12:g.44156104T>G NCBI36
NG_008847.1:g.44444A>C
NG_008847.2:g.53191A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*566A>C ENSP00000379142.4:n.*566A>C
ENST00000616242.5:c.568A>C ENSP00000482149.2:p.Lys190Gln
ENST00000682635.1:n.1054A>C
ENST00000345378.7:c.571A>C ENSP00000223366.2:p.Lys191Gln
ENST00000403799.8:c.568A>C MANE Select ENSP00000384247.3:p.Lys190Gln
ENST00000671824.1:c.568A>C ENSP00000500264.1:p.Lys190Gln
ENST00000673284.1:c.568A>C ENSP00000499852.1:p.Lys190Gln
ENST00000345378.6:c.571A>C ENSP00000223366.2:p.Lys191Gln
ENST00000395796.7:c.565A>C ENSP00000379142.3:p.Lys189Gln
ENST00000403799.7:c.568A>C ENSP00000384247.3:p.Lys190Gln
ENST00000437084.1:c.517A>C ENSP00000402840.1:p.Lys173Gln
ENST00000616242.4:c.565A>C ENSP00000482149.1:p.Lys189Gln
NM_000162.3:c.568A>C NP_000153.1:p.Lys190Gln
NM_033507.1:c.571A>C NP_277042.1:p.Lys191Gln
NM_033508.1:c.565A>C NP_277043.1:p.Lys189Gln
NM_000162.4:c.568A>C NP_000153.1:p.Lys190Gln
NM_001354800.1:c.568A>C NP_001341729.1:p.Lys190Gln
NM_033507.2:c.571A>C NP_277042.1:p.Lys191Gln
NM_033508.2:c.565A>C NP_277043.1:p.Lys189Gln
NM_000162.5:c.568A>C MANE Select NP_000153.1:p.Lys190Gln
NM_033507.3:c.571A>C NP_277042.1:p.Lys191Gln
NM_033508.3:c.565A>C NP_277043.1:p.Lys189Gln
Search 100 bp 5'
Search 100 bp 3'