Canonical Allele Identifier: CA367402148

Gene: GCK

Linked Data

• ClinVar Variation Id: 1489454
• ClinVar RCV Id: RCV001978311
• dbSNP Id: rs2128822105
• MyVariant Identifiers: chr7:g.44190650T>A (hg19) ; chr7:g.44151051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44151051T>A , CM000669.2:g.44151051T>A	GRCh38
NC_000007.13:g.44190650T>A , CM000669.1:g.44190650T>A	GRCh37
NC_000007.12:g.44157175T>A	NCBI36
NG_008847.1:g.43373A>T
NG_008847.2:g.52120A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*386A>T	ENSP00000379142.4:n.*386A>T
ENST00000616242.5:c.388A>T	ENSP00000482149.2:p.Ile130Phe
ENST00000682635.1:n.874A>T
ENST00000345378.7:c.391A>T	ENSP00000223366.2:p.Ile131Phe
ENST00000403799.8:c.388A>T MANE Select	ENSP00000384247.3:p.Ile130Phe
ENST00000671824.1:c.388A>T	ENSP00000500264.1:p.Ile130Phe
ENST00000673284.1:c.388A>T	ENSP00000499852.1:p.Ile130Phe
ENST00000345378.6:c.391A>T	ENSP00000223366.2:p.Ile131Phe
ENST00000395796.7:c.385A>T	ENSP00000379142.3:p.Ile129Phe
ENST00000403799.7:c.388A>T	ENSP00000384247.3:p.Ile130Phe
ENST00000437084.1:c.364-27A>T	ENSP00000402840.1:n.364-27A>T
ENST00000616242.4:c.385A>T	ENSP00000482149.1:p.Ile129Phe
NM_000162.3:c.388A>T	NP_000153.1:p.Ile130Phe
NM_033507.1:c.391A>T	NP_277042.1:p.Ile131Phe
NM_033508.1:c.385A>T	NP_277043.1:p.Ile129Phe
NM_000162.4:c.388A>T	NP_000153.1:p.Ile130Phe
NM_001354800.1:c.388A>T	NP_001341729.1:p.Ile130Phe
NM_033507.2:c.391A>T	NP_277042.1:p.Ile131Phe
NM_033508.2:c.385A>T	NP_277043.1:p.Ile129Phe
NM_000162.5:c.388A>T MANE Select	NP_000153.1:p.Ile130Phe
NM_033507.3:c.391A>T	NP_277042.1:p.Ile131Phe
NM_033508.3:c.385A>T	NP_277043.1:p.Ile129Phe