Canonical Allele Identifier: CA367398687

Gene: GCK

Linked Data

• gnomAD v4: 7-44145590-G-C
• MyVariant Identifiers: chr7:g.44185189G>C (hg19) ; chr7:g.44145590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145590G>C , CM000669.2:g.44145590G>C	GRCh38
NC_000007.13:g.44185189G>C , CM000669.1:g.44185189G>C	GRCh37
NC_000007.12:g.44151714G>C	NCBI36
NG_008847.1:g.48834C>G
NG_008847.2:g.57581C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1158C>G	ENSP00000379142.4:n.*1158C>G
ENST00000616242.5:c.*280C>G	ENSP00000482149.2:n.*280C>G
ENST00000683378.1:n.386C>G
ENST00000336642.9:c.194C>G	ENSP00000338009.5:p.Ala65Gly
ENST00000345378.7:c.1163C>G	ENSP00000223366.2:p.Ala388Gly
ENST00000403799.8:c.1160C>G MANE Select	ENSP00000384247.3:p.Ala387Gly
ENST00000671824.1:c.1223C>G	ENSP00000500264.1:p.Ala408Gly
ENST00000672743.1:n.172C>G
ENST00000673284.1:c.1160C>G	ENSP00000499852.1:p.Ala387Gly
ENST00000336642.8:c.212C>G	ENSP00000338009.4:p.Ala71Gly
ENST00000345378.6:c.1163C>G	ENSP00000223366.2:p.Ala388Gly
ENST00000395796.7:c.1157C>G	ENSP00000379142.3:p.Ala386Gly
ENST00000403799.7:c.1160C>G	ENSP00000384247.3:p.Ala387Gly
ENST00000437084.1:c.1109C>G	ENSP00000402840.1:p.Ala370Gly
ENST00000459642.1:n.540C>G
ENST00000616242.4:c.1157C>G	ENSP00000482149.1:p.Ala386Gly
NM_000162.3:c.1160C>G	NP_000153.1:p.Ala387Gly
NM_033507.1:c.1163C>G	NP_277042.1:p.Ala388Gly
NM_033508.1:c.1157C>G	NP_277043.1:p.Ala386Gly
NM_000162.4:c.1160C>G	NP_000153.1:p.Ala387Gly
NM_001354800.1:c.1160C>G	NP_001341729.1:p.Ala387Gly
NM_001354801.1:c.149C>G	NP_001341730.1:p.Ala50Gly
NM_001354802.1:c.20C>G	NP_001341731.1:p.Ala7Gly
NM_001354803.1:c.194C>G	NP_001341732.1:p.Ala65Gly
NM_033507.2:c.1163C>G	NP_277042.1:p.Ala388Gly
NM_033508.2:c.1157C>G	NP_277043.1:p.Ala386Gly
XM_024446707.1:c.20C>G	XP_024302475.1:p.Ala7Gly
NM_000162.5:c.1160C>G MANE Select	NP_000153.1:p.Ala387Gly
NM_033507.3:c.1163C>G	NP_277042.1:p.Ala388Gly
NM_033508.3:c.1157C>G	NP_277043.1:p.Ala386Gly
NM_001354803.2:c.194C>G	NP_001341732.1:p.Ala65Gly