Canonical Allele Identifier: CA367399839

Gene: GCK

Linked Data

• dbSNP Id: rs1236186874
• gnomAD v4: 7-44146509-G-A
• MyVariant Identifiers: chr7:g.44186108G>A (hg19) ; chr7:g.44146509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146509G>A , CM000669.2:g.44146509G>A	GRCh38
NC_000007.13:g.44186108G>A , CM000669.1:g.44186108G>A	GRCh37
NC_000007.12:g.44152633G>A	NCBI36
NG_008847.1:g.47915C>T
NG_008847.2:g.56662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*971C>T	ENSP00000379142.4:n.*971C>T
ENST00000616242.5:c.*93C>T	ENSP00000482149.2:n.*93C>T
ENST00000683378.1:n.199C>T
ENST00000345378.7:c.976C>T	ENSP00000223366.2:p.Arg326Cys
ENST00000403799.8:c.973C>T MANE Select	ENSP00000384247.3:p.Arg325Cys
ENST00000671824.1:c.1036C>T	ENSP00000500264.1:p.Arg346Cys
ENST00000673284.1:c.973C>T	ENSP00000499852.1:p.Arg325Cys
ENST00000345378.6:c.976C>T	ENSP00000223366.2:p.Arg326Cys
ENST00000395796.7:c.970C>T	ENSP00000379142.3:p.Arg324Cys
ENST00000403799.7:c.973C>T	ENSP00000384247.3:p.Arg325Cys
ENST00000437084.1:c.922C>T	ENSP00000402840.1:p.Arg308Cys
ENST00000473353.1:n.271C>T
ENST00000616242.4:c.970C>T	ENSP00000482149.1:p.Arg324Cys
NM_000162.3:c.973C>T	NP_000153.1:p.Arg325Cys
NM_033507.1:c.976C>T	NP_277042.1:p.Arg326Cys
NM_033508.1:c.970C>T	NP_277043.1:p.Arg324Cys
NM_000162.4:c.973C>T	NP_000153.1:p.Arg325Cys
NM_001354800.1:c.973C>T	NP_001341729.1:p.Arg325Cys
NM_001354801.1:c.8+110C>T	NP_001341730.1:n.8+110C>T
NM_033507.2:c.976C>T	NP_277042.1:p.Arg326Cys
NM_033508.2:c.970C>T	NP_277043.1:p.Arg324Cys
NM_000162.5:c.973C>T MANE Select	NP_000153.1:p.Arg325Cys
NM_033507.3:c.976C>T	NP_277042.1:p.Arg326Cys
NM_033508.3:c.970C>T	NP_277043.1:p.Arg324Cys