Canonical Allele Identifier: CA367399688

Gene: GCK

Linked Data

• gnomAD v4: 7-44146464-T-A
• MyVariant Identifiers: chr7:g.44186063T>A (hg19) ; chr7:g.44146464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146464T>A , CM000669.2:g.44146464T>A	GRCh38
NC_000007.13:g.44186063T>A , CM000669.1:g.44186063T>A	GRCh37
NC_000007.12:g.44152588T>A	NCBI36
NG_008847.1:g.47960A>T
NG_008847.2:g.56707A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1016A>T	ENSP00000379142.4:n.*1016A>T
ENST00000616242.5:c.*138A>T	ENSP00000482149.2:n.*138A>T
ENST00000683378.1:n.244A>T
ENST00000345378.7:c.1021A>T	ENSP00000223366.2:p.Ser341Cys
ENST00000403799.8:c.1018A>T MANE Select	ENSP00000384247.3:p.Ser340Cys
ENST00000671824.1:c.1081A>T	ENSP00000500264.1:p.Ser361Cys
ENST00000673284.1:c.1018A>T	ENSP00000499852.1:p.Ser340Cys
ENST00000345378.6:c.1021A>T	ENSP00000223366.2:p.Ser341Cys
ENST00000395796.7:c.1015A>T	ENSP00000379142.3:p.Ser339Cys
ENST00000403799.7:c.1018A>T	ENSP00000384247.3:p.Ser340Cys
ENST00000437084.1:c.967A>T	ENSP00000402840.1:p.Ser323Cys
ENST00000473353.1:n.316A>T
ENST00000616242.4:c.1015A>T	ENSP00000482149.1:p.Ser339Cys
NM_000162.3:c.1018A>T	NP_000153.1:p.Ser340Cys
NM_033507.1:c.1021A>T	NP_277042.1:p.Ser341Cys
NM_033508.1:c.1015A>T	NP_277043.1:p.Ser339Cys
NM_000162.4:c.1018A>T	NP_000153.1:p.Ser340Cys
NM_001354800.1:c.1018A>T	NP_001341729.1:p.Ser340Cys
NM_001354801.1:c.8+155A>T	NP_001341730.1:n.8+155A>T
NM_033507.2:c.1021A>T	NP_277042.1:p.Ser341Cys
NM_033508.2:c.1015A>T	NP_277043.1:p.Ser339Cys
NM_000162.5:c.1018A>T MANE Select	NP_000153.1:p.Ser340Cys
NM_033507.3:c.1021A>T	NP_277042.1:p.Ser341Cys
NM_033508.3:c.1015A>T	NP_277043.1:p.Ser339Cys