Canonical Allele Identifier: CA4239528

Gene: GCK

Linked Data

• ClinVar Variation Id: 3029863
• ClinVar RCV Id: RCV003899115
• dbSNP Id: rs772908574
• ExAC: 7:44187347 G / A
• gnomAD v2: 7-44187347-G-A
• gnomAD v3: 7-44147748-G-A
• gnomAD v4: 7-44147748-G-A
• MyVariant Identifiers: chr7:g.44187347G>A (hg19) ; chr7:g.44147748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147748G>A , CM000669.2:g.44147748G>A	GRCh38
NC_000007.13:g.44187347G>A , CM000669.1:g.44187347G>A	GRCh37
NC_000007.12:g.44153872G>A	NCBI36
NG_008847.1:g.46676C>T
NG_008847.2:g.55423C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*763C>T	ENSP00000379142.4:n.*763C>T
ENST00000616242.5:c.765C>T	ENSP00000482149.2:p.Thr255=
ENST00000345378.7:c.768C>T	ENSP00000223366.2:p.Thr256=
ENST00000403799.8:c.765C>T MANE Select	ENSP00000384247.3:p.Thr255=
ENST00000671824.1:c.765C>T	ENSP00000500264.1:p.Thr255=
ENST00000673284.1:c.765C>T	ENSP00000499852.1:p.Thr255=
ENST00000345378.6:c.768C>T	ENSP00000223366.2:p.Thr256=
ENST00000395796.7:c.762C>T	ENSP00000379142.3:p.Thr254=
ENST00000403799.7:c.765C>T	ENSP00000384247.3:p.Thr255=
ENST00000437084.1:c.714C>T	ENSP00000402840.1:p.Thr238=
ENST00000616242.4:c.762C>T	ENSP00000482149.1:p.Thr254=
NM_000162.3:c.765C>T	NP_000153.1:p.Thr255=
NM_033507.1:c.768C>T	NP_277042.1:p.Thr256=
NM_033508.1:c.762C>T	NP_277043.1:p.Thr254=
XR_927223.1:n.82G>A
NM_000162.4:c.765C>T	NP_000153.1:p.Thr255=
NM_001354800.1:c.765C>T	NP_001341729.1:p.Thr255=
NM_033507.2:c.768C>T	NP_277042.1:p.Thr256=
NM_033508.2:c.762C>T	NP_277043.1:p.Thr254=
XR_927223.2:n.82G>A
NM_000162.5:c.765C>T MANE Select	NP_000153.1:p.Thr255=
NM_033507.3:c.768C>T	NP_277042.1:p.Thr256=
NM_033508.3:c.762C>T	NP_277043.1:p.Thr254=