Canonical Allele Identifier: CA367399649

Gene: GCK

Linked Data

• gnomAD v4: 7-44146140-C-A
• MyVariant Identifiers: chr7:g.44185739C>A (hg19) ; chr7:g.44146140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146140C>A , CM000669.2:g.44146140C>A	GRCh38
NC_000007.13:g.44185739C>A , CM000669.1:g.44185739C>A	GRCh37
NC_000007.12:g.44152264C>A	NCBI36
NG_008847.1:g.48284G>T
NG_008847.2:g.57031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+323G>T	ENSP00000379142.4:n.*1017+323G>T
ENST00000616242.5:c.*139+323G>T	ENSP00000482149.2:n.*139+323G>T
ENST00000683378.1:n.245+323G>T
ENST00000336642.9:c.-14G>T	ENSP00000338009.5:n.-14G>T
ENST00000345378.7:c.1022+323G>T	ENSP00000223366.2:n.1022+323G>T
ENST00000403799.8:c.1019+323G>T MANE Select	ENSP00000384247.3:n.1019+323G>T
ENST00000671824.1:c.1082+323G>T	ENSP00000500264.1:n.1082+323G>T
ENST00000673284.1:c.1019+323G>T	ENSP00000499852.1:n.1019+323G>T
ENST00000336642.8:c.5G>T	ENSP00000338009.4:p.Gly2Val
ENST00000345378.6:c.1022+323G>T	ENSP00000223366.2:n.1022+323G>T
ENST00000395796.7:c.1016+323G>T	ENSP00000379142.3:n.1016+323G>T
ENST00000403799.7:c.1019+323G>T	ENSP00000384247.3:n.1019+323G>T
ENST00000437084.1:c.968+323G>T	ENSP00000402840.1:n.968+323G>T
ENST00000473353.1:n.317+323G>T
ENST00000616242.4:c.1016+323G>T	ENSP00000482149.1:n.1016+323G>T
NM_000162.3:c.1019+323G>T	NP_000153.1:n.1019+323G>T
NM_033507.1:c.1022+323G>T	NP_277042.1:n.1022+323G>T
NM_033508.1:c.1016+323G>T	NP_277043.1:n.1016+323G>T
NM_000162.4:c.1019+323G>T	NP_000153.1:n.1019+323G>T
NM_001354800.1:c.1019+323G>T	NP_001341729.1:n.1019+323G>T
NM_001354801.1:c.9-410G>T	NP_001341730.1:n.9-410G>T
NM_001354802.1:c.-353G>T	NP_001341731.1:n.-353G>T
NM_001354803.1:c.-14G>T	NP_001341732.1:n.-14G>T
NM_033507.2:c.1022+323G>T	NP_277042.1:n.1022+323G>T
NM_033508.2:c.1016+323G>T	NP_277043.1:n.1016+323G>T
NM_000162.5:c.1019+323G>T MANE Select	NP_000153.1:n.1019+323G>T
NM_033507.3:c.1022+323G>T	NP_277042.1:n.1022+323G>T
NM_033508.3:c.1016+323G>T	NP_277043.1:n.1016+323G>T
NM_001354803.2:c.-14G>T	NP_001341732.1:n.-14G>T