Canonical Allele Identifier: CA367399821

Gene: GCK

Linked Data

• gnomAD v4: 7-44146503-G-A
• MyVariant Identifiers: chr7:g.44186102G>A (hg19) ; chr7:g.44146503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146503G>A , CM000669.2:g.44146503G>A	GRCh38
NC_000007.13:g.44186102G>A , CM000669.1:g.44186102G>A	GRCh37
NC_000007.12:g.44152627G>A	NCBI36
NG_008847.1:g.47921C>T
NG_008847.2:g.56668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*977C>T	ENSP00000379142.4:n.*977C>T
ENST00000616242.5:c.*99C>T	ENSP00000482149.2:n.*99C>T
ENST00000683378.1:n.205C>T
ENST00000345378.7:c.982C>T	ENSP00000223366.2:p.Arg328Cys
ENST00000403799.8:c.979C>T MANE Select	ENSP00000384247.3:p.Arg327Cys
ENST00000671824.1:c.1042C>T	ENSP00000500264.1:p.Arg348Cys
ENST00000673284.1:c.979C>T	ENSP00000499852.1:p.Arg327Cys
ENST00000345378.6:c.982C>T	ENSP00000223366.2:p.Arg328Cys
ENST00000395796.7:c.976C>T	ENSP00000379142.3:p.Arg326Cys
ENST00000403799.7:c.979C>T	ENSP00000384247.3:p.Arg327Cys
ENST00000437084.1:c.928C>T	ENSP00000402840.1:p.Arg310Cys
ENST00000473353.1:n.277C>T
ENST00000616242.4:c.976C>T	ENSP00000482149.1:p.Arg326Cys
NM_000162.3:c.979C>T	NP_000153.1:p.Arg327Cys
NM_033507.1:c.982C>T	NP_277042.1:p.Arg328Cys
NM_033508.1:c.976C>T	NP_277043.1:p.Arg326Cys
NM_000162.4:c.979C>T	NP_000153.1:p.Arg327Cys
NM_001354800.1:c.979C>T	NP_001341729.1:p.Arg327Cys
NM_001354801.1:c.8+116C>T	NP_001341730.1:n.8+116C>T
NM_033507.2:c.982C>T	NP_277042.1:p.Arg328Cys
NM_033508.2:c.976C>T	NP_277043.1:p.Arg326Cys
NM_000162.5:c.979C>T MANE Select	NP_000153.1:p.Arg327Cys
NM_033507.3:c.982C>T	NP_277042.1:p.Arg328Cys
NM_033508.3:c.976C>T	NP_277043.1:p.Arg326Cys