Canonical Allele Identifier: CA838789152

Gene: GCK

Linked Data

• dbSNP Id: rs1211081769
• gnomAD v3: 7-44145443-G-C
• gnomAD v4: 7-44145443-G-C
• MyVariant Identifiers: chr7:g.44185042G>C (hg19) ; chr7:g.44145443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145443G>C , CM000669.2:g.44145443G>C	GRCh38
NC_000007.13:g.44185042G>C , CM000669.1:g.44185042G>C	GRCh37
NC_000007.12:g.44151567G>C	NCBI36
NG_008847.1:g.48981C>G
NG_008847.2:g.57728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1251+54C>G	ENSP00000379142.4:n.*1251+54C>G
ENST00000616242.5:c.*373+54C>G	ENSP00000482149.2:n.*373+54C>G
ENST00000683378.1:n.479+54C>G
ENST00000336642.9:c.287+54C>G	ENSP00000338009.5:n.287+54C>G
ENST00000345378.7:c.1256+54C>G	ENSP00000223366.2:n.1256+54C>G
ENST00000403799.8:c.1253+54C>G MANE Select	ENSP00000384247.3:n.1253+54C>G
ENST00000671824.1:c.1316+54C>G	ENSP00000500264.1:n.1316+54C>G
ENST00000672743.1:n.265+54C>G
ENST00000673284.1:c.1253+54C>G	ENSP00000499852.1:n.1253+54C>G
ENST00000336642.8:c.305+54C>G	ENSP00000338009.4:n.305+54C>G
ENST00000345378.6:c.1256+54C>G	ENSP00000223366.2:n.1256+54C>G
ENST00000395796.7:c.1250+54C>G	ENSP00000379142.3:n.1250+54C>G
ENST00000403799.7:c.1253+54C>G	ENSP00000384247.3:n.1253+54C>G
ENST00000437084.1:c.1202+54C>G	ENSP00000402840.1:n.1202+54C>G
ENST00000459642.1:n.633+54C>G
ENST00000616242.4:c.1250+54C>G	ENSP00000482149.1:n.1250+54C>G
NM_000162.3:c.1253+54C>G	NP_000153.1:n.1253+54C>G
NM_033507.1:c.1256+54C>G	NP_277042.1:n.1256+54C>G
NM_033508.1:c.1250+54C>G	NP_277043.1:n.1250+54C>G
NM_000162.4:c.1253+54C>G	NP_000153.1:n.1253+54C>G
NM_001354800.1:c.1253+54C>G	NP_001341729.1:n.1253+54C>G
NM_001354801.1:c.242+54C>G	NP_001341730.1:n.242+54C>G
NM_001354802.1:c.113+54C>G	NP_001341731.1:n.113+54C>G
NM_001354803.1:c.287+54C>G	NP_001341732.1:n.287+54C>G
NM_033507.2:c.1256+54C>G	NP_277042.1:n.1256+54C>G
NM_033508.2:c.1250+54C>G	NP_277043.1:n.1250+54C>G
XM_024446707.1:c.113+54C>G	XP_024302475.1:n.113+54C>G
NM_000162.5:c.1253+54C>G MANE Select	NP_000153.1:n.1253+54C>G
NM_033507.3:c.1256+54C>G	NP_277042.1:n.1256+54C>G
NM_033508.3:c.1250+54C>G	NP_277043.1:n.1250+54C>G
NM_001354803.2:c.287+54C>G	NP_001341732.1:n.287+54C>G