Canonical Allele Identifier: CA573796718

Gene: GCK

Linked Data

• dbSNP Id: rs1402468092
• gnomAD v2: 7-44184689-G-C
• gnomAD v3: 7-44145090-G-C
• gnomAD v4: 7-44145090-G-C
• MyVariant Identifiers: chr7:g.44184689G>C (hg19) ; chr7:g.44145090G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145090G>C , CM000669.2:g.44145090G>C	GRCh38
NC_000007.13:g.44184689G>C , CM000669.1:g.44184689G>C	GRCh37
NC_000007.12:g.44151214G>C	NCBI36
NG_008847.1:g.49334C>G
NG_008847.2:g.58081C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1442C>G	ENSP00000379142.4:n.*1442C>G
ENST00000616242.5:c.*564C>G	ENSP00000482149.2:n.*564C>G
ENST00000683378.1:n.670C>G
ENST00000336642.9:c.*46C>G	ENSP00000338009.5:n.*46C>G
ENST00000345378.7:c.*46C>G	ENSP00000223366.2:n.*46C>G
ENST00000403799.8:c.*46C>G MANE Select	ENSP00000384247.3:n.*46C>G
ENST00000671824.1:c.*46C>G	ENSP00000500264.1:n.*46C>G
ENST00000672743.1:n.381+75C>G
ENST00000673284.1:c.1369+75C>G	ENSP00000499852.1:n.1369+75C>G
ENST00000336642.8:c.496C>G	ENSP00000338009.4:n.496C>G
ENST00000345378.6:c.*46C>G	ENSP00000223366.2:n.*46C>G
ENST00000395796.7:c.*46C>G	ENSP00000379142.3:n.*46C>G
ENST00000403799.7:c.*46C>G	ENSP00000384247.3:n.*46C>G
ENST00000459642.1:n.824C>G
ENST00000616242.4:c.1441C>G	ENSP00000482149.1:n.1441C>G
NM_000162.3:c.*46C>G	NP_000153.1:n.*46C>G
NM_033507.1:c.*46C>G	NP_277042.1:n.*46C>G
NM_033508.1:c.*46C>G	NP_277043.1:n.*46C>G
NM_000162.4:c.*46C>G	NP_000153.1:n.*46C>G
NM_001354800.1:c.1369+75C>G	NP_001341729.1:n.1369+75C>G
NM_001354801.1:c.*46C>G	NP_001341730.1:n.*46C>G
NM_001354802.1:c.229+75C>G	NP_001341731.1:n.229+75C>G
NM_001354803.1:c.*46C>G	NP_001341732.1:n.*46C>G
NM_033507.2:c.*46C>G	NP_277042.1:n.*46C>G
NM_033508.2:c.*46C>G	NP_277043.1:n.*46C>G
XM_024446707.1:c.*46C>G	XP_024302475.1:n.*46C>G
NM_000162.5:c.*46C>G MANE Select	NP_000153.1:n.*46C>G
NM_033507.3:c.*46C>G	NP_277042.1:n.*46C>G
NM_033508.3:c.*46C>G	NP_277043.1:n.*46C>G
NM_001354803.2:c.*46C>G	NP_001341732.1:n.*46C>G