Canonical Allele Identifier: CA367399848

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186111G>C (hg19) ; chr7:g.44146512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146512G>C , CM000669.2:g.44146512G>C	GRCh38
NC_000007.13:g.44186111G>C , CM000669.1:g.44186111G>C	GRCh37
NC_000007.12:g.44152636G>C	NCBI36
NG_008847.1:g.47912C>G
NG_008847.2:g.56659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*968C>G	ENSP00000379142.4:n.*968C>G
ENST00000616242.5:c.*90C>G	ENSP00000482149.2:n.*90C>G
ENST00000683378.1:n.196C>G
ENST00000345378.7:c.973C>G	ENSP00000223366.2:p.Leu325Val
ENST00000403799.8:c.970C>G MANE Select	ENSP00000384247.3:p.Leu324Val
ENST00000671824.1:c.1033C>G	ENSP00000500264.1:p.Leu345Val
ENST00000673284.1:c.970C>G	ENSP00000499852.1:p.Leu324Val
ENST00000345378.6:c.973C>G	ENSP00000223366.2:p.Leu325Val
ENST00000395796.7:c.967C>G	ENSP00000379142.3:p.Leu323Val
ENST00000403799.7:c.970C>G	ENSP00000384247.3:p.Leu324Val
ENST00000437084.1:c.919C>G	ENSP00000402840.1:p.Leu307Val
ENST00000473353.1:n.268C>G
ENST00000616242.4:c.967C>G	ENSP00000482149.1:p.Leu323Val
NM_000162.3:c.970C>G	NP_000153.1:p.Leu324Val
NM_033507.1:c.973C>G	NP_277042.1:p.Leu325Val
NM_033508.1:c.967C>G	NP_277043.1:p.Leu323Val
NM_000162.4:c.970C>G	NP_000153.1:p.Leu324Val
NM_001354800.1:c.970C>G	NP_001341729.1:p.Leu324Val
NM_001354801.1:c.8+107C>G	NP_001341730.1:n.8+107C>G
NM_033507.2:c.973C>G	NP_277042.1:p.Leu325Val
NM_033508.2:c.967C>G	NP_277043.1:p.Leu323Val
NM_000162.5:c.970C>G MANE Select	NP_000153.1:p.Leu324Val
NM_033507.3:c.973C>G	NP_277042.1:p.Leu325Val
NM_033508.3:c.967C>G	NP_277043.1:p.Leu323Val