Canonical Allele Identifier: CA367400275

Gene: GCK

Linked Data

• ClinVar Variation Id: 1700683
• ClinVar RCV Id: RCV002285561
• gnomAD v4: 7-44146619-C-G
• MyVariant Identifiers: chr7:g.44186218C>G (hg19) ; chr7:g.44146619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146619C>G , CM000669.2:g.44146619C>G	GRCh38
NC_000007.13:g.44186218C>G , CM000669.1:g.44186218C>G	GRCh37
NC_000007.12:g.44152743C>G	NCBI36
NG_008847.1:g.47805G>C
NG_008847.2:g.56552G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*862-1G>C	ENSP00000379142.4:n.*862-1G>C
ENST00000616242.5:c.854-1G>C	ENSP00000482149.2:n.854-1G>C
ENST00000683378.1:n.89G>C
ENST00000345378.7:c.867-1G>C	ENSP00000223366.2:n.867-1G>C
ENST00000403799.8:c.864-1G>C MANE Select	ENSP00000384247.3:n.864-1G>C
ENST00000671824.1:c.927-1G>C	ENSP00000500264.1:n.927-1G>C
ENST00000673284.1:c.864-1G>C	ENSP00000499852.1:n.864-1G>C
ENST00000345378.6:c.867-1G>C	ENSP00000223366.2:n.867-1G>C
ENST00000395796.7:c.861-1G>C	ENSP00000379142.3:n.861-1G>C
ENST00000403799.7:c.864-1G>C	ENSP00000384247.3:n.864-1G>C
ENST00000437084.1:c.813-1G>C	ENSP00000402840.1:n.813-1G>C
ENST00000473353.1:n.162-1G>C
ENST00000616242.4:c.861-1G>C	ENSP00000482149.1:n.861-1G>C
NM_000162.3:c.864-1G>C	NP_000153.1:n.864-1G>C
NM_033507.1:c.867-1G>C	NP_277042.1:n.867-1G>C
NM_033508.1:c.861-1G>C	NP_277043.1:n.861-1G>C
NM_000162.4:c.864-1G>C	NP_000153.1:n.864-1G>C
NM_001354800.1:c.864-1G>C	NP_001341729.1:n.864-1G>C
NM_001354801.1:c.8G>C	NP_001341730.1:p.Ser3Thr
NM_033507.2:c.867-1G>C	NP_277042.1:n.867-1G>C
NM_033508.2:c.861-1G>C	NP_277043.1:n.861-1G>C
NM_000162.5:c.864-1G>C MANE Select	NP_000153.1:n.864-1G>C
NM_033507.3:c.867-1G>C	NP_277042.1:n.867-1G>C
NM_033508.3:c.861-1G>C	NP_277043.1:n.861-1G>C