Canonical Allele Identifier: CA454863318

Gene: GCK

Linked Data

• gnomAD v4: 7-44145646-G-T
• MyVariant Identifiers: chr7:g.44185245G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145646G>T , CM000669.2:g.44145646G>T	GRCh38
NC_000007.13:g.44185245G>T , CM000669.1:g.44185245G>T	GRCh37
NC_000007.12:g.44151770G>T	NCBI36
NG_008847.1:g.48778C>A
NG_008847.2:g.57525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1102C>A	ENSP00000379142.4:n.*1102C>A
ENST00000616242.5:c.*224C>A	ENSP00000482149.2:n.*224C>A
ENST00000683378.1:n.330C>A
ENST00000336642.9:c.138C>A	ENSP00000338009.5:p.Arg46=
ENST00000345378.7:c.1107C>A	ENSP00000223366.2:p.Arg369=
ENST00000403799.8:c.1104C>A MANE Select	ENSP00000384247.3:p.Arg368=
ENST00000671824.1:c.1167C>A	ENSP00000500264.1:p.Arg389=
ENST00000672743.1:n.116C>A
ENST00000673284.1:c.1104C>A	ENSP00000499852.1:p.Arg368=
ENST00000336642.8:c.156C>A	ENSP00000338009.4:p.Arg52=
ENST00000345378.6:c.1107C>A	ENSP00000223366.2:p.Arg369=
ENST00000395796.7:c.1101C>A	ENSP00000379142.3:p.Arg367=
ENST00000403799.7:c.1104C>A	ENSP00000384247.3:p.Arg368=
ENST00000437084.1:c.1053C>A	ENSP00000402840.1:p.Arg351=
ENST00000459642.1:n.484C>A
ENST00000473353.1:n.402C>A
ENST00000616242.4:c.1101C>A	ENSP00000482149.1:p.Arg367=
NM_000162.3:c.1104C>A	NP_000153.1:p.Arg368=
NM_033507.1:c.1107C>A	NP_277042.1:p.Arg369=
NM_033508.1:c.1101C>A	NP_277043.1:p.Arg367=
NM_000162.4:c.1104C>A	NP_000153.1:p.Arg368=
NM_001354800.1:c.1104C>A	NP_001341729.1:p.Arg368=
NM_001354801.1:c.93C>A	NP_001341730.1:p.Arg31=
NM_001354802.1:c.-37C>A	NP_001341731.1:n.-37C>A
NM_001354803.1:c.138C>A	NP_001341732.1:p.Arg46=
NM_033507.2:c.1107C>A	NP_277042.1:p.Arg369=
NM_033508.2:c.1101C>A	NP_277043.1:p.Arg367=
XM_024446707.1:c.-37C>A	XP_024302475.1:n.-37C>A
NM_000162.5:c.1104C>A MANE Select	NP_000153.1:p.Arg368=
NM_033507.3:c.1107C>A	NP_277042.1:p.Arg369=
NM_033508.3:c.1101C>A	NP_277043.1:p.Arg367=
NM_001354803.2:c.138C>A	NP_001341732.1:p.Arg46=