Canonical Allele Identifier: CA4239522

Gene: GCK

Linked Data

• ClinVar Variation Id: 1801513
• ClinVar RCV Id: RCV002463833
• dbSNP Id: rs754094813
• ExAC: 7:44187320 G / A
• gnomAD v2: 7-44187320-G-A
• gnomAD v3: 7-44147721-G-A
• gnomAD v4: 7-44147721-G-A
• COSMIC: COSM1450906 ; COSM1450907 ; COSM4785262
• MyVariant Identifiers: chr7:g.44187320G>A (hg19) ; chr7:g.44147721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147721G>A , CM000669.2:g.44147721G>A	GRCh38
NC_000007.13:g.44187320G>A , CM000669.1:g.44187320G>A	GRCh37
NC_000007.12:g.44153845G>A	NCBI36
NG_008847.1:g.46703C>T
NG_008847.2:g.55450C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*790C>T	ENSP00000379142.4:n.*790C>T
ENST00000616242.5:c.792C>T	ENSP00000482149.2:p.Gly264=
ENST00000345378.7:c.795C>T	ENSP00000223366.2:p.Gly265=
ENST00000403799.8:c.792C>T MANE Select	ENSP00000384247.3:p.Gly264=
ENST00000671824.1:c.792C>T	ENSP00000500264.1:p.Gly264=
ENST00000673284.1:c.792C>T	ENSP00000499852.1:p.Gly264=
ENST00000345378.6:c.795C>T	ENSP00000223366.2:p.Gly265=
ENST00000395796.7:c.789C>T	ENSP00000379142.3:p.Gly263=
ENST00000403799.7:c.792C>T	ENSP00000384247.3:p.Gly264=
ENST00000437084.1:c.741C>T	ENSP00000402840.1:p.Gly247=
ENST00000616242.4:c.789C>T	ENSP00000482149.1:p.Gly263=
NM_000162.3:c.792C>T	NP_000153.1:p.Gly264=
NM_033507.1:c.795C>T	NP_277042.1:p.Gly265=
NM_033508.1:c.789C>T	NP_277043.1:p.Gly263=
XR_927223.1:n.55G>A
NM_000162.4:c.792C>T	NP_000153.1:p.Gly264=
NM_001354800.1:c.792C>T	NP_001341729.1:p.Gly264=
NM_033507.2:c.795C>T	NP_277042.1:p.Gly265=
NM_033508.2:c.789C>T	NP_277043.1:p.Gly263=
XR_927223.2:n.55G>A
NM_000162.5:c.792C>T MANE Select	NP_000153.1:p.Gly264=
NM_033507.3:c.795C>T	NP_277042.1:p.Gly265=
NM_033508.3:c.789C>T	NP_277043.1:p.Gly263=