Canonical Allele Identifier: CA367402030

Gene: GCK

Linked Data

• ClinVar Variation Id: 1338430
• ClinVar RCV Id: RCV001817801
• dbSNP Id: rs2128822078
• MyVariant Identifiers: chr7:g.44190616T>G (hg19) ; chr7:g.44151017T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44151017T>G , CM000669.2:g.44151017T>G	GRCh38
NC_000007.13:g.44190616T>G , CM000669.1:g.44190616T>G	GRCh37
NC_000007.12:g.44157141T>G	NCBI36
NG_008847.1:g.43407A>C
NG_008847.2:g.52154A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*420A>C	ENSP00000379142.4:n.*420A>C
ENST00000616242.5:c.422A>C	ENSP00000482149.2:p.His141Pro
ENST00000682635.1:n.908A>C
ENST00000345378.7:c.425A>C	ENSP00000223366.2:p.His142Pro
ENST00000403799.8:c.422A>C MANE Select	ENSP00000384247.3:p.His141Pro
ENST00000671824.1:c.422A>C	ENSP00000500264.1:p.His141Pro
ENST00000673284.1:c.422A>C	ENSP00000499852.1:p.His141Pro
ENST00000345378.6:c.425A>C	ENSP00000223366.2:p.His142Pro
ENST00000395796.7:c.419A>C	ENSP00000379142.3:p.His140Pro
ENST00000403799.7:c.422A>C	ENSP00000384247.3:p.His141Pro
ENST00000437084.1:c.371A>C	ENSP00000402840.1:p.His124Pro
ENST00000616242.4:c.419A>C	ENSP00000482149.1:p.His140Pro
NM_000162.3:c.422A>C	NP_000153.1:p.His141Pro
NM_033507.1:c.425A>C	NP_277042.1:p.His142Pro
NM_033508.1:c.419A>C	NP_277043.1:p.His140Pro
NM_000162.4:c.422A>C	NP_000153.1:p.His141Pro
NM_001354800.1:c.422A>C	NP_001341729.1:p.His141Pro
NM_033507.2:c.425A>C	NP_277042.1:p.His142Pro
NM_033508.2:c.419A>C	NP_277043.1:p.His140Pro
NM_000162.5:c.422A>C MANE Select	NP_000153.1:p.His141Pro
NM_033507.3:c.425A>C	NP_277042.1:p.His142Pro
NM_033508.3:c.419A>C	NP_277043.1:p.His140Pro