Canonical Allele Identifier: CA367401309

Gene: GCK

Linked Data

• ClinVar Variation Id: 804851
• ClinVar RCV Id: RCV002265919 ; RCV002354899
• dbSNP Id: rs1583599303
• gnomAD v4: 7-44149813-G-A
• MyVariant Identifiers: chr7:g.44189412G>A (hg19) ; chr7:g.44149813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149813G>A , CM000669.2:g.44149813G>A	GRCh38
NC_000007.13:g.44189412G>A , CM000669.1:g.44189412G>A	GRCh37
NC_000007.12:g.44155937G>A	NCBI36
NG_008847.1:g.44611C>T
NG_008847.2:g.53358C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*624C>T	ENSP00000379142.4:n.*624C>T
ENST00000616242.5:c.626C>T	ENSP00000482149.2:p.Thr209Met
ENST00000682635.1:n.1112C>T
ENST00000345378.7:c.629C>T	ENSP00000223366.2:p.Thr210Met
ENST00000403799.8:c.626C>T MANE Select	ENSP00000384247.3:p.Thr209Met
ENST00000671824.1:c.626C>T	ENSP00000500264.1:p.Thr209Met
ENST00000673284.1:c.626C>T	ENSP00000499852.1:p.Thr209Met
ENST00000345378.6:c.629C>T	ENSP00000223366.2:p.Thr210Met
ENST00000395796.7:c.623C>T	ENSP00000379142.3:p.Thr208Met
ENST00000403799.7:c.626C>T	ENSP00000384247.3:p.Thr209Met
ENST00000437084.1:c.575C>T	ENSP00000402840.1:p.Thr192Met
ENST00000616242.4:c.623C>T	ENSP00000482149.1:p.Thr208Met
NM_000162.3:c.626C>T	NP_000153.1:p.Thr209Met
NM_033507.1:c.629C>T	NP_277042.1:p.Thr210Met
NM_033508.1:c.623C>T	NP_277043.1:p.Thr208Met
NM_000162.4:c.626C>T	NP_000153.1:p.Thr209Met
NM_001354800.1:c.626C>T	NP_001341729.1:p.Thr209Met
NM_033507.2:c.629C>T	NP_277042.1:p.Thr210Met
NM_033508.2:c.623C>T	NP_277043.1:p.Thr208Met
NM_000162.5:c.626C>T MANE Select	NP_000153.1:p.Thr209Met
NM_033507.3:c.629C>T	NP_277042.1:p.Thr210Met
NM_033508.3:c.623C>T	NP_277043.1:p.Thr208Met