Canonical Allele Identifier: CA2682580015

Gene: GCK

Linked Data

• gnomAD v4: 7-44145065-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145065G>C , CM000669.2:g.44145065G>C	GRCh38
NC_000007.13:g.44184664G>C , CM000669.1:g.44184664G>C	GRCh37
NC_000007.12:g.44151189G>C	NCBI36
NG_008847.1:g.49359C>G
NG_008847.2:g.58106C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1467C>G	ENSP00000379142.4:n.*1467C>G
ENST00000616242.5:c.*589C>G	ENSP00000482149.2:n.*589C>G
ENST00000683378.1:n.695C>G
ENST00000336642.9:c.*71C>G	ENSP00000338009.5:n.*71C>G
ENST00000345378.7:c.*71C>G	ENSP00000223366.2:n.*71C>G
ENST00000403799.8:c.*71C>G MANE Select	ENSP00000384247.3:n.*71C>G
ENST00000671824.1:c.*71C>G	ENSP00000500264.1:n.*71C>G
ENST00000672743.1:n.381+100C>G
ENST00000673284.1:c.1369+100C>G	ENSP00000499852.1:n.1369+100C>G
ENST00000336642.8:c.521C>G	ENSP00000338009.4:n.521C>G
ENST00000345378.6:c.*71C>G	ENSP00000223366.2:n.*71C>G
ENST00000395796.7:c.*71C>G	ENSP00000379142.3:n.*71C>G
ENST00000403799.7:c.*71C>G	ENSP00000384247.3:n.*71C>G
ENST00000459642.1:n.849C>G
ENST00000616242.4:c.1466C>G	ENSP00000482149.1:n.1466C>G
NM_000162.3:c.*71C>G	NP_000153.1:n.*71C>G
NM_033507.1:c.*71C>G	NP_277042.1:n.*71C>G
NM_033508.1:c.*71C>G	NP_277043.1:n.*71C>G
NM_000162.4:c.*71C>G	NP_000153.1:n.*71C>G
NM_001354800.1:c.1369+100C>G	NP_001341729.1:n.1369+100C>G
NM_001354801.1:c.*71C>G	NP_001341730.1:n.*71C>G
NM_001354802.1:c.229+100C>G	NP_001341731.1:n.229+100C>G
NM_001354803.1:c.*71C>G	NP_001341732.1:n.*71C>G
NM_033507.2:c.*71C>G	NP_277042.1:n.*71C>G
NM_033508.2:c.*71C>G	NP_277043.1:n.*71C>G
XM_024446707.1:c.*71C>G	XP_024302475.1:n.*71C>G
NM_000162.5:c.*71C>G MANE Select	NP_000153.1:n.*71C>G
NM_033507.3:c.*71C>G	NP_277042.1:n.*71C>G
NM_033508.3:c.*71C>G	NP_277043.1:n.*71C>G
NM_001354803.2:c.*71C>G	NP_001341732.1:n.*71C>G