Canonical Allele Identifier: CA367401189

Gene: GCK

Linked Data

• ClinVar Variation Id: 1172896
• ClinVar RCV Id: RCV001527032 ; RCV001658238 ; RCV002368554 ; RCV002488347 ; RCV003399324
• dbSNP Id: rs142952813
• gnomAD v4: 7-44149779-G-T
• COSMIC: COSM6318219 ; COSM6318220 ; COSM6318221
• MyVariant Identifiers: chr7:g.44189378G>T (hg19) ; chr7:g.44149779G>T (hg38)
• ERepo: CA367401189/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149779G>T , CM000669.2:g.44149779G>T	GRCh38
NC_000007.13:g.44189378G>T , CM000669.1:g.44189378G>T	GRCh37
NC_000007.12:g.44155903G>T	NCBI36
NG_008847.1:g.44645C>A
NG_008847.2:g.53392C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*658C>A	ENSP00000379142.4:n.*658C>A
ENST00000616242.5:c.660C>A	ENSP00000482149.2:p.Cys220Ter
ENST00000682635.1:n.1146C>A
ENST00000345378.7:c.663C>A	ENSP00000223366.2:p.Cys221Ter
ENST00000403799.8:c.660C>A MANE Select	ENSP00000384247.3:p.Cys220Ter
ENST00000671824.1:c.660C>A	ENSP00000500264.1:p.Cys220Ter
ENST00000673284.1:c.660C>A	ENSP00000499852.1:p.Cys220Ter
ENST00000345378.6:c.663C>A	ENSP00000223366.2:p.Cys221Ter
ENST00000395796.7:c.657C>A	ENSP00000379142.3:p.Cys219Ter
ENST00000403799.7:c.660C>A	ENSP00000384247.3:p.Cys220Ter
ENST00000437084.1:c.609C>A	ENSP00000402840.1:p.Cys203Ter
ENST00000616242.4:c.657C>A	ENSP00000482149.1:p.Cys219Ter
NM_000162.3:c.660C>A	NP_000153.1:p.Cys220Ter
NM_033507.1:c.663C>A	NP_277042.1:p.Cys221Ter
NM_033508.1:c.657C>A	NP_277043.1:p.Cys219Ter
NM_000162.4:c.660C>A	NP_000153.1:p.Cys220Ter
NM_001354800.1:c.660C>A	NP_001341729.1:p.Cys220Ter
NM_033507.2:c.663C>A	NP_277042.1:p.Cys221Ter
NM_033508.2:c.657C>A	NP_277043.1:p.Cys219Ter
NM_000162.5:c.660C>A MANE Select	NP_000153.1:p.Cys220Ter
NM_033507.3:c.663C>A	NP_277042.1:p.Cys221Ter
NM_033508.3:c.657C>A	NP_277043.1:p.Cys219Ter