Canonical Allele Identifier: CA367402973

Gene: GCK

Linked Data

• ClinVar Variation Id: 1352737
• ClinVar RCV Id: RCV002049532
• dbSNP Id: rs2128822702
• MyVariant Identifiers: chr7:g.44191982A>G (hg19) ; chr7:g.44152383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152383A>G , CM000669.2:g.44152383A>G	GRCh38
NC_000007.13:g.44191982A>G , CM000669.1:g.44191982A>G	GRCh37
NC_000007.12:g.44158507A>G	NCBI36
NG_008847.1:g.42041T>C
NG_008847.2:g.50788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*249T>C	ENSP00000379142.4:n.*249T>C
ENST00000616242.5:c.251T>C	ENSP00000482149.2:p.Phe84Ser
ENST00000682635.1:n.737T>C
ENST00000345378.7:c.254T>C	ENSP00000223366.2:p.Phe85Ser
ENST00000403799.8:c.251T>C MANE Select	ENSP00000384247.3:p.Phe84Ser
ENST00000671824.1:c.251T>C	ENSP00000500264.1:p.Phe84Ser
ENST00000673284.1:c.251T>C	ENSP00000499852.1:p.Phe84Ser
ENST00000345378.6:c.254T>C	ENSP00000223366.2:p.Phe85Ser
ENST00000395796.7:c.248T>C	ENSP00000379142.3:p.Phe83Ser
ENST00000403799.7:c.251T>C	ENSP00000384247.3:p.Phe84Ser
ENST00000437084.1:c.251T>C	ENSP00000402840.1:p.Phe84Ser
ENST00000616242.4:c.248T>C	ENSP00000482149.1:p.Phe83Ser
NM_000162.3:c.251T>C	NP_000153.1:p.Phe84Ser
NM_033507.1:c.254T>C	NP_277042.1:p.Phe85Ser
NM_033508.1:c.248T>C	NP_277043.1:p.Phe83Ser
NM_000162.4:c.251T>C	NP_000153.1:p.Phe84Ser
NM_001354800.1:c.251T>C	NP_001341729.1:p.Phe84Ser
NM_033507.2:c.254T>C	NP_277042.1:p.Phe85Ser
NM_033508.2:c.248T>C	NP_277043.1:p.Phe83Ser
NM_000162.5:c.251T>C MANE Select	NP_000153.1:p.Phe84Ser
NM_033507.3:c.254T>C	NP_277042.1:p.Phe85Ser
NM_033508.3:c.248T>C	NP_277043.1:p.Phe83Ser