Canonical Allele Identifier: CA367399957

Gene: GCK

Linked Data

• gnomAD v4: 7-44146543-G-T
• MyVariant Identifiers: chr7:g.44186142G>T (hg19) ; chr7:g.44146543G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146543G>T , CM000669.2:g.44146543G>T	GRCh38
NC_000007.13:g.44186142G>T , CM000669.1:g.44186142G>T	GRCh37
NC_000007.12:g.44152667G>T	NCBI36
NG_008847.1:g.47881C>A
NG_008847.2:g.56628C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*937C>A	ENSP00000379142.4:n.*937C>A
ENST00000616242.5:c.*59C>A	ENSP00000482149.2:n.*59C>A
ENST00000683378.1:n.165C>A
ENST00000345378.7:c.942C>A	ENSP00000223366.2:p.Asn314Lys
ENST00000403799.8:c.939C>A MANE Select	ENSP00000384247.3:p.Asn313Lys
ENST00000671824.1:c.1002C>A	ENSP00000500264.1:p.Asn334Lys
ENST00000673284.1:c.939C>A	ENSP00000499852.1:p.Asn313Lys
ENST00000345378.6:c.942C>A	ENSP00000223366.2:p.Asn314Lys
ENST00000395796.7:c.936C>A	ENSP00000379142.3:p.Asn312Lys
ENST00000403799.7:c.939C>A	ENSP00000384247.3:p.Asn313Lys
ENST00000437084.1:c.888C>A	ENSP00000402840.1:p.Asn296Lys
ENST00000473353.1:n.237C>A
ENST00000616242.4:c.936C>A	ENSP00000482149.1:p.Asn312Lys
NM_000162.3:c.939C>A	NP_000153.1:p.Asn313Lys
NM_033507.1:c.942C>A	NP_277042.1:p.Asn314Lys
NM_033508.1:c.936C>A	NP_277043.1:p.Asn312Lys
NM_000162.4:c.939C>A	NP_000153.1:p.Asn313Lys
NM_001354800.1:c.939C>A	NP_001341729.1:p.Asn313Lys
NM_001354801.1:c.8+76C>A	NP_001341730.1:n.8+76C>A
NM_033507.2:c.942C>A	NP_277042.1:p.Asn314Lys
NM_033508.2:c.936C>A	NP_277043.1:p.Asn312Lys
NM_000162.5:c.939C>A MANE Select	NP_000153.1:p.Asn313Lys
NM_033507.3:c.942C>A	NP_277042.1:p.Asn314Lys
NM_033508.3:c.936C>A	NP_277043.1:p.Asn312Lys