Canonical Allele Identifier: CA367399920

Gene: GCK

Linked Data

• gnomAD v4: 7-44146532-T-C
• MyVariant Identifiers: chr7:g.44186131T>C (hg19) ; chr7:g.44146532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146532T>C , CM000669.2:g.44146532T>C	GRCh38
NC_000007.13:g.44186131T>C , CM000669.1:g.44186131T>C	GRCh37
NC_000007.12:g.44152656T>C	NCBI36
NG_008847.1:g.47892A>G
NG_008847.2:g.56639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*948A>G	ENSP00000379142.4:n.*948A>G
ENST00000616242.5:c.*70A>G	ENSP00000482149.2:n.*70A>G
ENST00000683378.1:n.176A>G
ENST00000345378.7:c.953A>G	ENSP00000223366.2:p.His318Arg
ENST00000403799.8:c.950A>G MANE Select	ENSP00000384247.3:p.His317Arg
ENST00000671824.1:c.1013A>G	ENSP00000500264.1:p.His338Arg
ENST00000673284.1:c.950A>G	ENSP00000499852.1:p.His317Arg
ENST00000345378.6:c.953A>G	ENSP00000223366.2:p.His318Arg
ENST00000395796.7:c.947A>G	ENSP00000379142.3:p.His316Arg
ENST00000403799.7:c.950A>G	ENSP00000384247.3:p.His317Arg
ENST00000437084.1:c.899A>G	ENSP00000402840.1:p.His300Arg
ENST00000473353.1:n.248A>G
ENST00000616242.4:c.947A>G	ENSP00000482149.1:p.His316Arg
NM_000162.3:c.950A>G	NP_000153.1:p.His317Arg
NM_033507.1:c.953A>G	NP_277042.1:p.His318Arg
NM_033508.1:c.947A>G	NP_277043.1:p.His316Arg
NM_000162.4:c.950A>G	NP_000153.1:p.His317Arg
NM_001354800.1:c.950A>G	NP_001341729.1:p.His317Arg
NM_001354801.1:c.8+87A>G	NP_001341730.1:n.8+87A>G
NM_033507.2:c.953A>G	NP_277042.1:p.His318Arg
NM_033508.2:c.947A>G	NP_277043.1:p.His316Arg
NM_000162.5:c.950A>G MANE Select	NP_000153.1:p.His317Arg
NM_033507.3:c.953A>G	NP_277042.1:p.His318Arg
NM_033508.3:c.947A>G	NP_277043.1:p.His316Arg