Canonical Allele Identifier: CA4239553

Gene: GCK

Linked Data

• dbSNP Id: rs573168450
• ExAC: 7:44187479 G / T
• gnomAD v2: 7-44187479-G-T
• gnomAD v3: 7-44147880-G-T
• gnomAD v4: 7-44147880-G-T
• MyVariant Identifiers: chr7:g.44187479G>T (hg19) ; chr7:g.44147880G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147880G>T , CM000669.2:g.44147880G>T	GRCh38
NC_000007.13:g.44187479G>T , CM000669.1:g.44187479G>T	GRCh37
NC_000007.12:g.44154004G>T	NCBI36
NG_008847.1:g.46544C>A
NG_008847.2:g.55291C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*678-47C>A	ENSP00000379142.4:n.*678-47C>A
ENST00000616242.5:c.680-47C>A	ENSP00000482149.2:n.680-47C>A
ENST00000345378.7:c.683-47C>A	ENSP00000223366.2:n.683-47C>A
ENST00000403799.8:c.680-47C>A MANE Select	ENSP00000384247.3:n.680-47C>A
ENST00000671824.1:c.680-47C>A	ENSP00000500264.1:n.680-47C>A
ENST00000673284.1:c.680-47C>A	ENSP00000499852.1:n.680-47C>A
ENST00000345378.6:c.683-47C>A	ENSP00000223366.2:n.683-47C>A
ENST00000395796.7:c.677-47C>A	ENSP00000379142.3:n.677-47C>A
ENST00000403799.7:c.680-47C>A	ENSP00000384247.3:n.680-47C>A
ENST00000437084.1:c.629-47C>A	ENSP00000402840.1:n.629-47C>A
ENST00000616242.4:c.677-47C>A	ENSP00000482149.1:n.677-47C>A
NM_000162.3:c.680-47C>A	NP_000153.1:n.680-47C>A
NM_033507.1:c.683-47C>A	NP_277042.1:n.683-47C>A
NM_033508.1:c.677-47C>A	NP_277043.1:n.677-47C>A
XR_927223.1:n.82+132G>T
NM_000162.4:c.680-47C>A	NP_000153.1:n.680-47C>A
NM_001354800.1:c.680-47C>A	NP_001341729.1:n.680-47C>A
NM_033507.2:c.683-47C>A	NP_277042.1:n.683-47C>A
NM_033508.2:c.677-47C>A	NP_277043.1:n.677-47C>A
XR_927223.2:n.82+132G>T
NM_000162.5:c.680-47C>A MANE Select	NP_000153.1:n.680-47C>A
NM_033507.3:c.683-47C>A	NP_277042.1:n.683-47C>A
NM_033508.3:c.677-47C>A	NP_277043.1:n.677-47C>A