Canonical Allele Identifier: CA454606351

Gene: GCK

Linked Data

• gnomAD v4: 7-44145178-G-C
• MyVariant Identifiers: chr7:g.44184777G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145178G>C , CM000669.2:g.44145178G>C	GRCh38
NC_000007.13:g.44184777G>C , CM000669.1:g.44184777G>C	GRCh37
NC_000007.12:g.44151302G>C	NCBI36
NG_008847.1:g.49246C>G
NG_008847.2:g.57993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1354C>G	ENSP00000379142.4:n.*1354C>G
ENST00000616242.5:c.*476C>G	ENSP00000482149.2:n.*476C>G
ENST00000683378.1:n.582C>G
ENST00000336642.9:c.390C>G	ENSP00000338009.5:p.Val130=
ENST00000345378.7:c.1359C>G	ENSP00000223366.2:p.Val453=
ENST00000403799.8:c.1356C>G MANE Select	ENSP00000384247.3:p.Val452=
ENST00000671824.1:c.1419C>G	ENSP00000500264.1:p.Val473=
ENST00000672743.1:n.368C>G
ENST00000673284.1:c.1356C>G	ENSP00000499852.1:p.Val452=
ENST00000336642.8:c.408C>G	ENSP00000338009.4:p.Val136=
ENST00000345378.6:c.1359C>G	ENSP00000223366.2:p.Val453=
ENST00000395796.7:c.1353C>G	ENSP00000379142.3:p.Val451=
ENST00000403799.7:c.1356C>G	ENSP00000384247.3:p.Val452=
ENST00000437084.1:c.1305C>G	ENSP00000402840.1:p.Val435=
ENST00000459642.1:n.736C>G
ENST00000616242.4:c.1353C>G	ENSP00000482149.1:p.Val451=
NM_000162.3:c.1356C>G	NP_000153.1:p.Val452=
NM_033507.1:c.1359C>G	NP_277042.1:p.Val453=
NM_033508.1:c.1353C>G	NP_277043.1:p.Val451=
NM_000162.4:c.1356C>G	NP_000153.1:p.Val452=
NM_001354800.1:c.1356C>G	NP_001341729.1:p.Val452=
NM_001354801.1:c.345C>G	NP_001341730.1:p.Val115=
NM_001354802.1:c.216C>G	NP_001341731.1:p.Val72=
NM_001354803.1:c.390C>G	NP_001341732.1:p.Val130=
NM_033507.2:c.1359C>G	NP_277042.1:p.Val453=
NM_033508.2:c.1353C>G	NP_277043.1:p.Val451=
XM_024446707.1:c.216C>G	XP_024302475.1:p.Val72=
NM_000162.5:c.1356C>G MANE Select	NP_000153.1:p.Val452=
NM_033507.3:c.1359C>G	NP_277042.1:p.Val453=
NM_033508.3:c.1353C>G	NP_277043.1:p.Val451=
NM_001354803.2:c.390C>G	NP_001341732.1:p.Val130=