Canonical Allele Identifier: CA2682584087

Gene: GCK

Linked Data

• gnomAD v4: 7-44146172-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146172C>G , CM000669.2:g.44146172C>G	GRCh38
NC_000007.13:g.44185771C>G , CM000669.1:g.44185771C>G	GRCh37
NC_000007.12:g.44152296C>G	NCBI36
NG_008847.1:g.48252G>C
NG_008847.2:g.56999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+291G>C	ENSP00000379142.4:n.*1017+291G>C
ENST00000616242.5:c.*139+291G>C	ENSP00000482149.2:n.*139+291G>C
ENST00000683378.1:n.245+291G>C
ENST00000345378.7:c.1022+291G>C	ENSP00000223366.2:n.1022+291G>C
ENST00000403799.8:c.1019+291G>C MANE Select	ENSP00000384247.3:n.1019+291G>C
ENST00000671824.1:c.1082+291G>C	ENSP00000500264.1:n.1082+291G>C
ENST00000673284.1:c.1019+291G>C	ENSP00000499852.1:n.1019+291G>C
ENST00000345378.6:c.1022+291G>C	ENSP00000223366.2:n.1022+291G>C
ENST00000395796.7:c.1016+291G>C	ENSP00000379142.3:n.1016+291G>C
ENST00000403799.7:c.1019+291G>C	ENSP00000384247.3:n.1019+291G>C
ENST00000437084.1:c.968+291G>C	ENSP00000402840.1:n.968+291G>C
ENST00000473353.1:n.317+291G>C
ENST00000616242.4:c.1016+291G>C	ENSP00000482149.1:n.1016+291G>C
NM_000162.3:c.1019+291G>C	NP_000153.1:n.1019+291G>C
NM_033507.1:c.1022+291G>C	NP_277042.1:n.1022+291G>C
NM_033508.1:c.1016+291G>C	NP_277043.1:n.1016+291G>C
NM_000162.4:c.1019+291G>C	NP_000153.1:n.1019+291G>C
NM_001354800.1:c.1019+291G>C	NP_001341729.1:n.1019+291G>C
NM_001354801.1:c.9-442G>C	NP_001341730.1:n.9-442G>C
NM_033507.2:c.1022+291G>C	NP_277042.1:n.1022+291G>C
NM_033508.2:c.1016+291G>C	NP_277043.1:n.1016+291G>C
NM_000162.5:c.1019+291G>C MANE Select	NP_000153.1:n.1019+291G>C
NM_033507.3:c.1022+291G>C	NP_277042.1:n.1022+291G>C
NM_033508.3:c.1016+291G>C	NP_277043.1:n.1016+291G>C