Canonical Allele Identifier: CA367397195

Gene: GCK

Linked Data

• dbSNP Id: rs552762648
• gnomAD v2: 7-44184851-G-T
• gnomAD v4: 7-44145252-G-T
• MyVariant Identifiers: chr7:g.44184851G>T (hg19) ; chr7:g.44145252G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145252G>T , CM000669.2:g.44145252G>T	GRCh38
NC_000007.13:g.44184851G>T , CM000669.1:g.44184851G>T	GRCh37
NC_000007.12:g.44151376G>T	NCBI36
NG_008847.1:g.49172C>A
NG_008847.2:g.57919C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1280C>A	ENSP00000379142.4:n.*1280C>A
ENST00000616242.5:c.*402C>A	ENSP00000482149.2:n.*402C>A
ENST00000683378.1:n.508C>A
ENST00000336642.9:c.316C>A	ENSP00000338009.5:p.Arg106Ser
ENST00000345378.7:c.1285C>A	ENSP00000223366.2:p.Arg429Ser
ENST00000403799.8:c.1282C>A MANE Select	ENSP00000384247.3:p.Arg428Ser
ENST00000671824.1:c.1345C>A	ENSP00000500264.1:p.Arg449Ser
ENST00000672743.1:n.294C>A
ENST00000673284.1:c.1282C>A	ENSP00000499852.1:p.Arg428Ser
ENST00000336642.8:c.334C>A	ENSP00000338009.4:p.Arg112Ser
ENST00000345378.6:c.1285C>A	ENSP00000223366.2:p.Arg429Ser
ENST00000395796.7:c.1279C>A	ENSP00000379142.3:p.Arg427Ser
ENST00000403799.7:c.1282C>A	ENSP00000384247.3:p.Arg428Ser
ENST00000437084.1:c.1231C>A	ENSP00000402840.1:p.Arg411Ser
ENST00000459642.1:n.662C>A
ENST00000616242.4:c.1279C>A	ENSP00000482149.1:p.Arg427Ser
NM_000162.3:c.1282C>A	NP_000153.1:p.Arg428Ser
NM_033507.1:c.1285C>A	NP_277042.1:p.Arg429Ser
NM_033508.1:c.1279C>A	NP_277043.1:p.Arg427Ser
NM_000162.4:c.1282C>A	NP_000153.1:p.Arg428Ser
NM_001354800.1:c.1282C>A	NP_001341729.1:p.Arg428Ser
NM_001354801.1:c.271C>A	NP_001341730.1:p.Arg91Ser
NM_001354802.1:c.142C>A	NP_001341731.1:p.Arg48Ser
NM_001354803.1:c.316C>A	NP_001341732.1:p.Arg106Ser
NM_033507.2:c.1285C>A	NP_277042.1:p.Arg429Ser
NM_033508.2:c.1279C>A	NP_277043.1:p.Arg427Ser
XM_024446707.1:c.142C>A	XP_024302475.1:p.Arg48Ser
NM_000162.5:c.1282C>A MANE Select	NP_000153.1:p.Arg428Ser
NM_033507.3:c.1285C>A	NP_277042.1:p.Arg429Ser
NM_033508.3:c.1279C>A	NP_277043.1:p.Arg427Ser
NM_001354803.2:c.316C>A	NP_001341732.1:p.Arg106Ser