Canonical Allele Identifier: CA454606337

Gene: GCK

Linked Data

• dbSNP Id: rs1458224395
• gnomAD v2: 7-44184756-C-T
• gnomAD v4: 7-44145157-C-T
• MyVariant Identifiers: chr7:g.44184756C>T (hg19) ; chr7:g.44145157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145157C>T , CM000669.2:g.44145157C>T	GRCh38
NC_000007.13:g.44184756C>T , CM000669.1:g.44184756C>T	GRCh37
NC_000007.12:g.44151281C>T	NCBI36
NG_008847.1:g.49267G>A
NG_008847.2:g.58014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1375G>A	ENSP00000379142.4:n.*1375G>A
ENST00000616242.5:c.*497G>A	ENSP00000482149.2:n.*497G>A
ENST00000683378.1:n.603G>A
ENST00000336642.9:c.411G>A	ENSP00000338009.5:p.Lys137=
ENST00000345378.7:c.1380G>A	ENSP00000223366.2:p.Lys460=
ENST00000403799.8:c.1377G>A MANE Select	ENSP00000384247.3:p.Lys459=
ENST00000671824.1:c.1440G>A	ENSP00000500264.1:p.Lys480=
ENST00000672743.1:n.381+8G>A
ENST00000673284.1:c.1369+8G>A	ENSP00000499852.1:n.1369+8G>A
ENST00000336642.8:c.429G>A	ENSP00000338009.4:p.Lys143=
ENST00000345378.6:c.1380G>A	ENSP00000223366.2:p.Lys460=
ENST00000395796.7:c.1374G>A	ENSP00000379142.3:p.Lys458=
ENST00000403799.7:c.1377G>A	ENSP00000384247.3:p.Lys459=
ENST00000437084.1:c.1326G>A	ENSP00000402840.1:p.Lys442=
ENST00000459642.1:n.757G>A
ENST00000616242.4:c.1374G>A	ENSP00000482149.1:p.Lys458=
NM_000162.3:c.1377G>A	NP_000153.1:p.Lys459=
NM_033507.1:c.1380G>A	NP_277042.1:p.Lys460=
NM_033508.1:c.1374G>A	NP_277043.1:p.Lys458=
NM_000162.4:c.1377G>A	NP_000153.1:p.Lys459=
NM_001354800.1:c.1369+8G>A	NP_001341729.1:n.1369+8G>A
NM_001354801.1:c.366G>A	NP_001341730.1:p.Lys122=
NM_001354802.1:c.229+8G>A	NP_001341731.1:n.229+8G>A
NM_001354803.1:c.411G>A	NP_001341732.1:p.Lys137=
NM_033507.2:c.1380G>A	NP_277042.1:p.Lys460=
NM_033508.2:c.1374G>A	NP_277043.1:p.Lys458=
XM_024446707.1:c.237G>A	XP_024302475.1:p.Lys79=
NM_000162.5:c.1377G>A MANE Select	NP_000153.1:p.Lys459=
NM_033507.3:c.1380G>A	NP_277042.1:p.Lys460=
NM_033508.3:c.1374G>A	NP_277043.1:p.Lys458=
NM_001354803.2:c.411G>A	NP_001341732.1:p.Lys137=