Canonical Allele Identifier: CA367399949

Gene: GCK

Linked Data

• ClinVar Variation Id: 1679546
• ClinVar RCV Id: RCV002227425
• dbSNP Id: rs1554334886
• MyVariant Identifiers: chr7:g.44186140A>C (hg19) ; chr7:g.44146541A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146541A>C , CM000669.2:g.44146541A>C	GRCh38
NC_000007.13:g.44186140A>C , CM000669.1:g.44186140A>C	GRCh37
NC_000007.12:g.44152665A>C	NCBI36
NG_008847.1:g.47883T>G
NG_008847.2:g.56630T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*939T>G	ENSP00000379142.4:n.*939T>G
ENST00000616242.5:c.*61T>G	ENSP00000482149.2:n.*61T>G
ENST00000683378.1:n.167T>G
ENST00000345378.7:c.944T>G	ENSP00000223366.2:p.Leu315Arg
ENST00000403799.8:c.941T>G MANE Select	ENSP00000384247.3:p.Leu314Arg
ENST00000671824.1:c.1004T>G	ENSP00000500264.1:p.Leu335Arg
ENST00000673284.1:c.941T>G	ENSP00000499852.1:p.Leu314Arg
ENST00000345378.6:c.944T>G	ENSP00000223366.2:p.Leu315Arg
ENST00000395796.7:c.938T>G	ENSP00000379142.3:p.Leu313Arg
ENST00000403799.7:c.941T>G	ENSP00000384247.3:p.Leu314Arg
ENST00000437084.1:c.890T>G	ENSP00000402840.1:p.Leu297Arg
ENST00000473353.1:n.239T>G
ENST00000616242.4:c.938T>G	ENSP00000482149.1:p.Leu313Arg
NM_000162.3:c.941T>G	NP_000153.1:p.Leu314Arg
NM_033507.1:c.944T>G	NP_277042.1:p.Leu315Arg
NM_033508.1:c.938T>G	NP_277043.1:p.Leu313Arg
NM_000162.4:c.941T>G	NP_000153.1:p.Leu314Arg
NM_001354800.1:c.941T>G	NP_001341729.1:p.Leu314Arg
NM_001354801.1:c.8+78T>G	NP_001341730.1:n.8+78T>G
NM_033507.2:c.944T>G	NP_277042.1:p.Leu315Arg
NM_033508.2:c.938T>G	NP_277043.1:p.Leu313Arg
NM_000162.5:c.941T>G MANE Select	NP_000153.1:p.Leu314Arg
NM_033507.3:c.944T>G	NP_277042.1:p.Leu315Arg
NM_033508.3:c.938T>G	NP_277043.1:p.Leu313Arg