Canonical Allele Identifier: CA454606346

Gene: GCK

Linked Data

• gnomAD v4: 7-44145172-C-G
• MyVariant Identifiers: chr7:g.44184771C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145172C>G , CM000669.2:g.44145172C>G	GRCh38
NC_000007.13:g.44184771C>G , CM000669.1:g.44184771C>G	GRCh37
NC_000007.12:g.44151296C>G	NCBI36
NG_008847.1:g.49252G>C
NG_008847.2:g.57999G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1360G>C	ENSP00000379142.4:n.*1360G>C
ENST00000616242.5:c.*482G>C	ENSP00000482149.2:n.*482G>C
ENST00000683378.1:n.588G>C
ENST00000336642.9:c.396G>C	ENSP00000338009.5:p.Ala132=
ENST00000345378.7:c.1365G>C	ENSP00000223366.2:p.Ala455=
ENST00000403799.8:c.1362G>C MANE Select	ENSP00000384247.3:p.Ala454=
ENST00000671824.1:c.1425G>C	ENSP00000500264.1:p.Ala475=
ENST00000672743.1:n.374G>C
ENST00000673284.1:c.1362G>C	ENSP00000499852.1:p.Ala454=
ENST00000336642.8:c.414G>C	ENSP00000338009.4:p.Ala138=
ENST00000345378.6:c.1365G>C	ENSP00000223366.2:p.Ala455=
ENST00000395796.7:c.1359G>C	ENSP00000379142.3:p.Ala453=
ENST00000403799.7:c.1362G>C	ENSP00000384247.3:p.Ala454=
ENST00000437084.1:c.1311G>C	ENSP00000402840.1:p.Ala437=
ENST00000459642.1:n.742G>C
ENST00000616242.4:c.1359G>C	ENSP00000482149.1:p.Ala453=
NM_000162.3:c.1362G>C	NP_000153.1:p.Ala454=
NM_033507.1:c.1365G>C	NP_277042.1:p.Ala455=
NM_033508.1:c.1359G>C	NP_277043.1:p.Ala453=
NM_000162.4:c.1362G>C	NP_000153.1:p.Ala454=
NM_001354800.1:c.1362G>C	NP_001341729.1:p.Ala454=
NM_001354801.1:c.351G>C	NP_001341730.1:p.Ala117=
NM_001354802.1:c.222G>C	NP_001341731.1:p.Ala74=
NM_001354803.1:c.396G>C	NP_001341732.1:p.Ala132=
NM_033507.2:c.1365G>C	NP_277042.1:p.Ala455=
NM_033508.2:c.1359G>C	NP_277043.1:p.Ala453=
XM_024446707.1:c.222G>C	XP_024302475.1:p.Ala74=
NM_000162.5:c.1362G>C MANE Select	NP_000153.1:p.Ala454=
NM_033507.3:c.1365G>C	NP_277042.1:p.Ala455=
NM_033508.3:c.1359G>C	NP_277043.1:p.Ala453=
NM_001354803.2:c.396G>C	NP_001341732.1:p.Ala132=