Canonical Allele Identifier: CA367400021

Gene: GCK

Linked Data

• ClinVar Variation Id: 2132820
• ClinVar RCV Id: RCV003040639
• MyVariant Identifiers: chr7:g.44186161A>G (hg19) ; chr7:g.44146562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146562A>G , CM000669.2:g.44146562A>G	GRCh38
NC_000007.13:g.44186161A>G , CM000669.1:g.44186161A>G	GRCh37
NC_000007.12:g.44152686A>G	NCBI36
NG_008847.1:g.47862T>C
NG_008847.2:g.56609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*918T>C	ENSP00000379142.4:n.*918T>C
ENST00000616242.5:c.*40T>C	ENSP00000482149.2:n.*40T>C
ENST00000683378.1:n.146T>C
ENST00000345378.7:c.923T>C	ENSP00000223366.2:p.Leu308Pro
ENST00000403799.8:c.920T>C MANE Select	ENSP00000384247.3:p.Leu307Pro
ENST00000671824.1:c.983T>C	ENSP00000500264.1:p.Leu328Pro
ENST00000673284.1:c.920T>C	ENSP00000499852.1:p.Leu307Pro
ENST00000345378.6:c.923T>C	ENSP00000223366.2:p.Leu308Pro
ENST00000395796.7:c.917T>C	ENSP00000379142.3:p.Leu306Pro
ENST00000403799.7:c.920T>C	ENSP00000384247.3:p.Leu307Pro
ENST00000437084.1:c.869T>C	ENSP00000402840.1:p.Leu290Pro
ENST00000473353.1:n.218T>C
ENST00000616242.4:c.917T>C	ENSP00000482149.1:p.Leu306Pro
NM_000162.3:c.920T>C	NP_000153.1:p.Leu307Pro
NM_033507.1:c.923T>C	NP_277042.1:p.Leu308Pro
NM_033508.1:c.917T>C	NP_277043.1:p.Leu306Pro
NM_000162.4:c.920T>C	NP_000153.1:p.Leu307Pro
NM_001354800.1:c.920T>C	NP_001341729.1:p.Leu307Pro
NM_001354801.1:c.8+57T>C	NP_001341730.1:n.8+57T>C
NM_033507.2:c.923T>C	NP_277042.1:p.Leu308Pro
NM_033508.2:c.917T>C	NP_277043.1:p.Leu306Pro
NM_000162.5:c.920T>C MANE Select	NP_000153.1:p.Leu307Pro
NM_033507.3:c.923T>C	NP_277042.1:p.Leu308Pro
NM_033508.3:c.917T>C	NP_277043.1:p.Leu306Pro