Canonical Allele Identifier: CA1100773686

Gene: GCK

Linked Data

• dbSNP Id: rs1253993722
• gnomAD v3: 7-44146316-C-A
• gnomAD v4: 7-44146316-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146316C>A , CM000669.2:g.44146316C>A	GRCh38
NC_000007.13:g.44185915C>A , CM000669.1:g.44185915C>A	GRCh37
NC_000007.12:g.44152440C>A	NCBI36
NG_008847.1:g.48108G>T
NG_008847.2:g.56855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+147G>T	ENSP00000379142.4:n.*1017+147G>T
ENST00000616242.5:c.*139+147G>T	ENSP00000482149.2:n.*139+147G>T
ENST00000683378.1:n.245+147G>T
ENST00000345378.7:c.1022+147G>T	ENSP00000223366.2:n.1022+147G>T
ENST00000403799.8:c.1019+147G>T MANE Select	ENSP00000384247.3:n.1019+147G>T
ENST00000671824.1:c.1082+147G>T	ENSP00000500264.1:n.1082+147G>T
ENST00000673284.1:c.1019+147G>T	ENSP00000499852.1:n.1019+147G>T
ENST00000345378.6:c.1022+147G>T	ENSP00000223366.2:n.1022+147G>T
ENST00000395796.7:c.1016+147G>T	ENSP00000379142.3:n.1016+147G>T
ENST00000403799.7:c.1019+147G>T	ENSP00000384247.3:n.1019+147G>T
ENST00000437084.1:c.968+147G>T	ENSP00000402840.1:n.968+147G>T
ENST00000473353.1:n.317+147G>T
ENST00000616242.4:c.1016+147G>T	ENSP00000482149.1:n.1016+147G>T
NM_000162.3:c.1019+147G>T	NP_000153.1:n.1019+147G>T
NM_033507.1:c.1022+147G>T	NP_277042.1:n.1022+147G>T
NM_033508.1:c.1016+147G>T	NP_277043.1:n.1016+147G>T
NM_000162.4:c.1019+147G>T	NP_000153.1:n.1019+147G>T
NM_001354800.1:c.1019+147G>T	NP_001341729.1:n.1019+147G>T
NM_001354801.1:c.8+303G>T	NP_001341730.1:n.8+303G>T
NM_033507.2:c.1022+147G>T	NP_277042.1:n.1022+147G>T
NM_033508.2:c.1016+147G>T	NP_277043.1:n.1016+147G>T
NM_000162.5:c.1019+147G>T MANE Select	NP_000153.1:n.1019+147G>T
NM_033507.3:c.1022+147G>T	NP_277042.1:n.1022+147G>T
NM_033508.3:c.1016+147G>T	NP_277043.1:n.1016+147G>T