Canonical Allele Identifier: CA367399926

Gene: GCK

Linked Data

• gnomAD v4: 7-44146533-G-T
• MyVariant Identifiers: chr7:g.44186132G>T (hg19) ; chr7:g.44146533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146533G>T , CM000669.2:g.44146533G>T	GRCh38
NC_000007.13:g.44186132G>T , CM000669.1:g.44186132G>T	GRCh37
NC_000007.12:g.44152657G>T	NCBI36
NG_008847.1:g.47891C>A
NG_008847.2:g.56638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*947C>A	ENSP00000379142.4:n.*947C>A
ENST00000616242.5:c.*69C>A	ENSP00000482149.2:n.*69C>A
ENST00000683378.1:n.175C>A
ENST00000345378.7:c.952C>A	ENSP00000223366.2:p.His318Asn
ENST00000403799.8:c.949C>A MANE Select	ENSP00000384247.3:p.His317Asn
ENST00000671824.1:c.1012C>A	ENSP00000500264.1:p.His338Asn
ENST00000673284.1:c.949C>A	ENSP00000499852.1:p.His317Asn
ENST00000345378.6:c.952C>A	ENSP00000223366.2:p.His318Asn
ENST00000395796.7:c.946C>A	ENSP00000379142.3:p.His316Asn
ENST00000403799.7:c.949C>A	ENSP00000384247.3:p.His317Asn
ENST00000437084.1:c.898C>A	ENSP00000402840.1:p.His300Asn
ENST00000473353.1:n.247C>A
ENST00000616242.4:c.946C>A	ENSP00000482149.1:p.His316Asn
NM_000162.3:c.949C>A	NP_000153.1:p.His317Asn
NM_033507.1:c.952C>A	NP_277042.1:p.His318Asn
NM_033508.1:c.946C>A	NP_277043.1:p.His316Asn
NM_000162.4:c.949C>A	NP_000153.1:p.His317Asn
NM_001354800.1:c.949C>A	NP_001341729.1:p.His317Asn
NM_001354801.1:c.8+86C>A	NP_001341730.1:n.8+86C>A
NM_033507.2:c.952C>A	NP_277042.1:p.His318Asn
NM_033508.2:c.946C>A	NP_277043.1:p.His316Asn
NM_000162.5:c.949C>A MANE Select	NP_000153.1:p.His317Asn
NM_033507.3:c.952C>A	NP_277042.1:p.His318Asn
NM_033508.3:c.946C>A	NP_277043.1:p.His316Asn