Canonical Allele Identifier: CA367399833

Gene: GCK

Linked Data

• ClinVar Variation Id: 2664366
• ClinVar RCV Id: RCV003445464
• MyVariant Identifiers: chr7:g.44186105T>G (hg19) ; chr7:g.44146506T>G (hg38)
• ERepo: CA367399833/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146506T>G , CM000669.2:g.44146506T>G	GRCh38
NC_000007.13:g.44186105T>G , CM000669.1:g.44186105T>G	GRCh37
NC_000007.12:g.44152630T>G	NCBI36
NG_008847.1:g.47918A>C
NG_008847.2:g.56665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*974A>C	ENSP00000379142.4:n.*974A>C
ENST00000616242.5:c.*96A>C	ENSP00000482149.2:n.*96A>C
ENST00000683378.1:n.202A>C
ENST00000345378.7:c.979A>C	ENSP00000223366.2:p.Thr327Pro
ENST00000403799.8:c.976A>C MANE Select	ENSP00000384247.3:p.Thr326Pro
ENST00000671824.1:c.1039A>C	ENSP00000500264.1:p.Thr347Pro
ENST00000673284.1:c.976A>C	ENSP00000499852.1:p.Thr326Pro
ENST00000345378.6:c.979A>C	ENSP00000223366.2:p.Thr327Pro
ENST00000395796.7:c.973A>C	ENSP00000379142.3:p.Thr325Pro
ENST00000403799.7:c.976A>C	ENSP00000384247.3:p.Thr326Pro
ENST00000437084.1:c.925A>C	ENSP00000402840.1:p.Thr309Pro
ENST00000473353.1:n.274A>C
ENST00000616242.4:c.973A>C	ENSP00000482149.1:p.Thr325Pro
NM_000162.3:c.976A>C	NP_000153.1:p.Thr326Pro
NM_033507.1:c.979A>C	NP_277042.1:p.Thr327Pro
NM_033508.1:c.973A>C	NP_277043.1:p.Thr325Pro
NM_000162.4:c.976A>C	NP_000153.1:p.Thr326Pro
NM_001354800.1:c.976A>C	NP_001341729.1:p.Thr326Pro
NM_001354801.1:c.8+113A>C	NP_001341730.1:n.8+113A>C
NM_033507.2:c.979A>C	NP_277042.1:p.Thr327Pro
NM_033508.2:c.973A>C	NP_277043.1:p.Thr325Pro
NM_000162.5:c.976A>C MANE Select	NP_000153.1:p.Thr326Pro
NM_033507.3:c.979A>C	NP_277042.1:p.Thr327Pro
NM_033508.3:c.973A>C	NP_277043.1:p.Thr325Pro