Canonical Allele Identifier: CA367400477

Gene: GCK

Linked Data

• ClinVar Variation Id: 435310
• ClinVar RCV Id: RCV000504015 ; RCV003330317
• dbSNP Id: rs767565869
• gnomAD v2: 7-44187288-C-A
• MyVariant Identifiers: chr7:g.44187288C>A (hg19) ; chr7:g.44147689C>A (hg38)
• ERepo: CA367400477/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147689C>A , CM000669.2:g.44147689C>A	GRCh38
NC_000007.13:g.44187288C>A , CM000669.1:g.44187288C>A	GRCh37
NC_000007.12:g.44153813C>A	NCBI36
NG_008847.1:g.46735G>T
NG_008847.2:g.55482G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*822G>T	ENSP00000379142.4:n.*822G>T
ENST00000616242.5:c.824G>T	ENSP00000482149.2:p.Arg275Leu
ENST00000345378.7:c.827G>T	ENSP00000223366.2:p.Arg276Leu
ENST00000403799.8:c.824G>T MANE Select	ENSP00000384247.3:p.Arg275Leu
ENST00000671824.1:c.824G>T	ENSP00000500264.1:p.Arg275Leu
ENST00000673284.1:c.824G>T	ENSP00000499852.1:p.Arg275Leu
ENST00000345378.6:c.827G>T	ENSP00000223366.2:p.Arg276Leu
ENST00000395796.7:c.821G>T	ENSP00000379142.3:p.Arg274Leu
ENST00000403799.7:c.824G>T	ENSP00000384247.3:p.Arg275Leu
ENST00000437084.1:c.773G>T	ENSP00000402840.1:p.Arg258Leu
ENST00000616242.4:c.821G>T	ENSP00000482149.1:p.Arg274Leu
NM_000162.3:c.824G>T	NP_000153.1:p.Arg275Leu
NM_033507.1:c.827G>T	NP_277042.1:p.Arg276Leu
NM_033508.1:c.821G>T	NP_277043.1:p.Arg274Leu
XR_927223.1:n.23C>A
NM_000162.4:c.824G>T	NP_000153.1:p.Arg275Leu
NM_001354800.1:c.824G>T	NP_001341729.1:p.Arg275Leu
NM_033507.2:c.827G>T	NP_277042.1:p.Arg276Leu
NM_033508.2:c.821G>T	NP_277043.1:p.Arg274Leu
XR_927223.2:n.23C>A
NM_000162.5:c.824G>T MANE Select	NP_000153.1:p.Arg275Leu
NM_033507.3:c.827G>T	NP_277042.1:p.Arg276Leu
NM_033508.3:c.821G>T	NP_277043.1:p.Arg274Leu