Canonical Allele Identifier: CA367399677

Gene: GCK

Linked Data

• ClinVar Variation Id: 1700672
• ClinVar RCV Id: RCV002285550
• gnomAD v4: 7-44146461-A-G
• MyVariant Identifiers: chr7:g.44186060A>G (hg19) ; chr7:g.44146461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146461A>G , CM000669.2:g.44146461A>G	GRCh38
NC_000007.13:g.44186060A>G , CM000669.1:g.44186060A>G	GRCh37
NC_000007.12:g.44152585A>G	NCBI36
NG_008847.1:g.47963T>C
NG_008847.2:g.56710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+2T>C	ENSP00000379142.4:n.*1017+2T>C
ENST00000616242.5:c.*139+2T>C	ENSP00000482149.2:n.*139+2T>C
ENST00000683378.1:n.245+2T>C
ENST00000345378.7:c.1022+2T>C	ENSP00000223366.2:n.1022+2T>C
ENST00000403799.8:c.1019+2T>C MANE Select	ENSP00000384247.3:n.1019+2T>C
ENST00000671824.1:c.1082+2T>C	ENSP00000500264.1:n.1082+2T>C
ENST00000673284.1:c.1019+2T>C	ENSP00000499852.1:n.1019+2T>C
ENST00000345378.6:c.1022+2T>C	ENSP00000223366.2:n.1022+2T>C
ENST00000395796.7:c.1016+2T>C	ENSP00000379142.3:n.1016+2T>C
ENST00000403799.7:c.1019+2T>C	ENSP00000384247.3:n.1019+2T>C
ENST00000437084.1:c.968+2T>C	ENSP00000402840.1:n.968+2T>C
ENST00000473353.1:n.317+2T>C
ENST00000616242.4:c.1016+2T>C	ENSP00000482149.1:n.1016+2T>C
NM_000162.3:c.1019+2T>C	NP_000153.1:n.1019+2T>C
NM_033507.1:c.1022+2T>C	NP_277042.1:n.1022+2T>C
NM_033508.1:c.1016+2T>C	NP_277043.1:n.1016+2T>C
NM_000162.4:c.1019+2T>C	NP_000153.1:n.1019+2T>C
NM_001354800.1:c.1019+2T>C	NP_001341729.1:n.1019+2T>C
NM_001354801.1:c.8+158T>C	NP_001341730.1:n.8+158T>C
NM_033507.2:c.1022+2T>C	NP_277042.1:n.1022+2T>C
NM_033508.2:c.1016+2T>C	NP_277043.1:n.1016+2T>C
NM_000162.5:c.1019+2T>C MANE Select	NP_000153.1:n.1019+2T>C
NM_033507.3:c.1022+2T>C	NP_277042.1:n.1022+2T>C
NM_033508.3:c.1016+2T>C	NP_277043.1:n.1016+2T>C