Canonical Allele Identifier: CA10626142

Gene: GCK

Linked Data

• ClinVar Variation Id: 360287
• ClinVar RCV Id: RCV000268687 ; RCV000313319 ; RCV000363301 ; RCV000399621 ; RCV002463444
• dbSNP Id: rs556996030
• gnomAD v2: 7-44184000-G-T
• gnomAD v3: 7-44144401-G-T
• gnomAD v4: 7-44144401-G-T
• MyVariant Identifiers: chr7:g.44184000G>T (hg19) ; chr7:g.44144401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44144401G>T , CM000669.2:g.44144401G>T	GRCh38
NC_000007.13:g.44184000G>T , CM000669.1:g.44184000G>T	GRCh37
NC_000007.12:g.44150525G>T	NCBI36
NG_008847.1:g.50023C>A
NG_008847.2:g.58770C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*2131C>A	ENSP00000379142.4:n.*2131C>A
ENST00000616242.5:c.*1253C>A	ENSP00000482149.2:n.*1253C>A
ENST00000683378.1:n.1359C>A
ENST00000336642.9:c.*735C>A	ENSP00000338009.5:n.*735C>A
ENST00000345378.7:c.*735C>A	ENSP00000223366.2:n.*735C>A
ENST00000403799.8:c.*735C>A MANE Select	ENSP00000384247.3:n.*735C>A
ENST00000671824.1:c.*735C>A	ENSP00000500264.1:n.*735C>A
ENST00000672743.1:n.382-165C>A
ENST00000673284.1:c.1370-165C>A	ENSP00000499852.1:n.1370-165C>A
ENST00000336642.8:c.1185C>A	ENSP00000338009.4:n.1185C>A
ENST00000345378.6:c.*735C>A	ENSP00000223366.2:n.*735C>A
ENST00000395796.7:c.*735C>A	ENSP00000379142.3:n.*735C>A
ENST00000403799.7:c.*735C>A	ENSP00000384247.3:n.*735C>A
ENST00000459642.1:n.1513C>A
ENST00000616242.4:c.2130C>A	ENSP00000482149.1:n.2130C>A
NM_000162.3:c.*735C>A	NP_000153.1:n.*735C>A
NM_033507.1:c.*735C>A	NP_277042.1:n.*735C>A
NM_033508.1:c.*735C>A	NP_277043.1:n.*735C>A
NM_000162.4:c.*735C>A	NP_000153.1:n.*735C>A
NM_001354800.1:c.1370-165C>A	NP_001341729.1:n.1370-165C>A
NM_001354801.1:c.*735C>A	NP_001341730.1:n.*735C>A
NM_001354802.1:c.230-165C>A	NP_001341731.1:n.230-165C>A
NM_001354803.1:c.*735C>A	NP_001341732.1:n.*735C>A
NM_033507.2:c.*735C>A	NP_277042.1:n.*735C>A
NM_033508.2:c.*735C>A	NP_277043.1:n.*735C>A
XM_024446707.1:c.*735C>A	XP_024302475.1:n.*735C>A
NM_000162.5:c.*735C>A MANE Select	NP_000153.1:n.*735C>A
NM_033507.3:c.*735C>A	NP_277042.1:n.*735C>A
NM_033508.3:c.*735C>A	NP_277043.1:n.*735C>A
NM_001354803.2:c.*735C>A	NP_001341732.1:n.*735C>A