Canonical Allele Identifier: CA454863228

Gene: GCK

Linked Data

• gnomAD v4: 7-44145598-C-G
• MyVariant Identifiers: chr7:g.44185197C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145598C>G , CM000669.2:g.44145598C>G	GRCh38
NC_000007.13:g.44185197C>G , CM000669.1:g.44185197C>G	GRCh37
NC_000007.12:g.44151722C>G	NCBI36
NG_008847.1:g.48826G>C
NG_008847.2:g.57573G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1150G>C	ENSP00000379142.4:n.*1150G>C
ENST00000616242.5:c.*272G>C	ENSP00000482149.2:n.*272G>C
ENST00000683378.1:n.378G>C
ENST00000336642.9:c.186G>C	ENSP00000338009.5:p.Ala62=
ENST00000345378.7:c.1155G>C	ENSP00000223366.2:p.Ala385=
ENST00000403799.8:c.1152G>C MANE Select	ENSP00000384247.3:p.Ala384=
ENST00000671824.1:c.1215G>C	ENSP00000500264.1:p.Ala405=
ENST00000672743.1:n.164G>C
ENST00000673284.1:c.1152G>C	ENSP00000499852.1:p.Ala384=
ENST00000336642.8:c.204G>C	ENSP00000338009.4:p.Ala68=
ENST00000345378.6:c.1155G>C	ENSP00000223366.2:p.Ala385=
ENST00000395796.7:c.1149G>C	ENSP00000379142.3:p.Ala383=
ENST00000403799.7:c.1152G>C	ENSP00000384247.3:p.Ala384=
ENST00000437084.1:c.1101G>C	ENSP00000402840.1:p.Ala367=
ENST00000459642.1:n.532G>C
ENST00000616242.4:c.1149G>C	ENSP00000482149.1:p.Ala383=
NM_000162.3:c.1152G>C	NP_000153.1:p.Ala384=
NM_033507.1:c.1155G>C	NP_277042.1:p.Ala385=
NM_033508.1:c.1149G>C	NP_277043.1:p.Ala383=
NM_000162.4:c.1152G>C	NP_000153.1:p.Ala384=
NM_001354800.1:c.1152G>C	NP_001341729.1:p.Ala384=
NM_001354801.1:c.141G>C	NP_001341730.1:p.Ala47=
NM_001354802.1:c.12G>C	NP_001341731.1:p.Ala4=
NM_001354803.1:c.186G>C	NP_001341732.1:p.Ala62=
NM_033507.2:c.1155G>C	NP_277042.1:p.Ala385=
NM_033508.2:c.1149G>C	NP_277043.1:p.Ala383=
XM_024446707.1:c.12G>C	XP_024302475.1:p.Ala4=
NM_000162.5:c.1152G>C MANE Select	NP_000153.1:p.Ala384=
NM_033507.3:c.1155G>C	NP_277042.1:p.Ala385=
NM_033508.3:c.1149G>C	NP_277043.1:p.Ala383=
NM_001354803.2:c.186G>C	NP_001341732.1:p.Ala62=