Canonical Allele Identifier: CA367399952

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186141G>C (hg19) ; chr7:g.44146542G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146542G>C , CM000669.2:g.44146542G>C	GRCh38
NC_000007.13:g.44186141G>C , CM000669.1:g.44186141G>C	GRCh37
NC_000007.12:g.44152666G>C	NCBI36
NG_008847.1:g.47882C>G
NG_008847.2:g.56629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*938C>G	ENSP00000379142.4:n.*938C>G
ENST00000616242.5:c.*60C>G	ENSP00000482149.2:n.*60C>G
ENST00000683378.1:n.166C>G
ENST00000345378.7:c.943C>G	ENSP00000223366.2:p.Leu315Val
ENST00000403799.8:c.940C>G MANE Select	ENSP00000384247.3:p.Leu314Val
ENST00000671824.1:c.1003C>G	ENSP00000500264.1:p.Leu335Val
ENST00000673284.1:c.940C>G	ENSP00000499852.1:p.Leu314Val
ENST00000345378.6:c.943C>G	ENSP00000223366.2:p.Leu315Val
ENST00000395796.7:c.937C>G	ENSP00000379142.3:p.Leu313Val
ENST00000403799.7:c.940C>G	ENSP00000384247.3:p.Leu314Val
ENST00000437084.1:c.889C>G	ENSP00000402840.1:p.Leu297Val
ENST00000473353.1:n.238C>G
ENST00000616242.4:c.937C>G	ENSP00000482149.1:p.Leu313Val
NM_000162.3:c.940C>G	NP_000153.1:p.Leu314Val
NM_033507.1:c.943C>G	NP_277042.1:p.Leu315Val
NM_033508.1:c.937C>G	NP_277043.1:p.Leu313Val
NM_000162.4:c.940C>G	NP_000153.1:p.Leu314Val
NM_001354800.1:c.940C>G	NP_001341729.1:p.Leu314Val
NM_001354801.1:c.8+77C>G	NP_001341730.1:n.8+77C>G
NM_033507.2:c.943C>G	NP_277042.1:p.Leu315Val
NM_033508.2:c.937C>G	NP_277043.1:p.Leu313Val
NM_000162.5:c.940C>G MANE Select	NP_000153.1:p.Leu314Val
NM_033507.3:c.943C>G	NP_277042.1:p.Leu315Val
NM_033508.3:c.937C>G	NP_277043.1:p.Leu313Val