Canonical Allele Identifier: CA367402900

Gene: GCK

Linked Data

• ClinVar Variation Id: 1676241
• ClinVar RCV Id: RCV002221403
• dbSNP Id: rs2128822695
• MyVariant Identifiers: chr7:g.44191964T>G (hg19) ; chr7:g.44152365T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152365T>G , CM000669.2:g.44152365T>G	GRCh38
NC_000007.13:g.44191964T>G , CM000669.1:g.44191964T>G	GRCh37
NC_000007.12:g.44158489T>G	NCBI36
NG_008847.1:g.42059A>C
NG_008847.2:g.50806A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*267A>C	ENSP00000379142.4:n.*267A>C
ENST00000616242.5:c.269A>C	ENSP00000482149.2:p.Lys90Thr
ENST00000682635.1:n.755A>C
ENST00000345378.7:c.272A>C	ENSP00000223366.2:p.Lys91Thr
ENST00000403799.8:c.269A>C MANE Select	ENSP00000384247.3:p.Lys90Thr
ENST00000671824.1:c.269A>C	ENSP00000500264.1:p.Lys90Thr
ENST00000673284.1:c.269A>C	ENSP00000499852.1:p.Lys90Thr
ENST00000345378.6:c.272A>C	ENSP00000223366.2:p.Lys91Thr
ENST00000395796.7:c.266A>C	ENSP00000379142.3:p.Lys89Thr
ENST00000403799.7:c.269A>C	ENSP00000384247.3:p.Lys90Thr
ENST00000437084.1:c.269A>C	ENSP00000402840.1:p.Lys90Thr
ENST00000616242.4:c.266A>C	ENSP00000482149.1:p.Lys89Thr
NM_000162.3:c.269A>C	NP_000153.1:p.Lys90Thr
NM_033507.1:c.272A>C	NP_277042.1:p.Lys91Thr
NM_033508.1:c.266A>C	NP_277043.1:p.Lys89Thr
NM_000162.4:c.269A>C	NP_000153.1:p.Lys90Thr
NM_001354800.1:c.269A>C	NP_001341729.1:p.Lys90Thr
NM_033507.2:c.272A>C	NP_277042.1:p.Lys91Thr
NM_033508.2:c.266A>C	NP_277043.1:p.Lys89Thr
NM_000162.5:c.269A>C MANE Select	NP_000153.1:p.Lys90Thr
NM_033507.3:c.272A>C	NP_277042.1:p.Lys91Thr
NM_033508.3:c.266A>C	NP_277043.1:p.Lys89Thr