Canonical Allele Identifier: CA367398519

Gene: GCK

Linked Data

• gnomAD v4: 7-44145557-C-A
• MyVariant Identifiers: chr7:g.44185156C>A (hg19) ; chr7:g.44145557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145557C>A , CM000669.2:g.44145557C>A	GRCh38
NC_000007.13:g.44185156C>A , CM000669.1:g.44185156C>A	GRCh37
NC_000007.12:g.44151681C>A	NCBI36
NG_008847.1:g.48867G>T
NG_008847.2:g.57614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1191G>T	ENSP00000379142.4:n.*1191G>T
ENST00000616242.5:c.*313G>T	ENSP00000482149.2:n.*313G>T
ENST00000683378.1:n.419G>T
ENST00000336642.9:c.227G>T	ENSP00000338009.5:p.Ser76Ile
ENST00000345378.7:c.1196G>T	ENSP00000223366.2:p.Ser399Ile
ENST00000403799.8:c.1193G>T MANE Select	ENSP00000384247.3:p.Ser398Ile
ENST00000671824.1:c.1256G>T	ENSP00000500264.1:p.Ser419Ile
ENST00000672743.1:n.205G>T
ENST00000673284.1:c.1193G>T	ENSP00000499852.1:p.Ser398Ile
ENST00000336642.8:c.245G>T	ENSP00000338009.4:p.Ser82Ile
ENST00000345378.6:c.1196G>T	ENSP00000223366.2:p.Ser399Ile
ENST00000395796.7:c.1190G>T	ENSP00000379142.3:p.Ser397Ile
ENST00000403799.7:c.1193G>T	ENSP00000384247.3:p.Ser398Ile
ENST00000437084.1:c.1142G>T	ENSP00000402840.1:p.Ser381Ile
ENST00000459642.1:n.573G>T
ENST00000616242.4:c.1190G>T	ENSP00000482149.1:p.Ser397Ile
NM_000162.3:c.1193G>T	NP_000153.1:p.Ser398Ile
NM_033507.1:c.1196G>T	NP_277042.1:p.Ser399Ile
NM_033508.1:c.1190G>T	NP_277043.1:p.Ser397Ile
NM_000162.4:c.1193G>T	NP_000153.1:p.Ser398Ile
NM_001354800.1:c.1193G>T	NP_001341729.1:p.Ser398Ile
NM_001354801.1:c.182G>T	NP_001341730.1:p.Ser61Ile
NM_001354802.1:c.53G>T	NP_001341731.1:p.Ser18Ile
NM_001354803.1:c.227G>T	NP_001341732.1:p.Ser76Ile
NM_033507.2:c.1196G>T	NP_277042.1:p.Ser399Ile
NM_033508.2:c.1190G>T	NP_277043.1:p.Ser397Ile
XM_024446707.1:c.53G>T	XP_024302475.1:p.Ser18Ile
NM_000162.5:c.1193G>T MANE Select	NP_000153.1:p.Ser398Ile
NM_033507.3:c.1196G>T	NP_277042.1:p.Ser399Ile
NM_033508.3:c.1190G>T	NP_277043.1:p.Ser397Ile
NM_001354803.2:c.227G>T	NP_001341732.1:p.Ser76Ile