Canonical Allele Identifier: CA367401193

Gene: GCK

Linked Data

• ClinVar Variation Id: 2691835
• ClinVar RCV Id: RCV003494032 ; RCV003565693
• MyVariant Identifiers: chr7:g.44189379C>A (hg19) ; chr7:g.44149780C>A (hg38)
• ERepo: CA367401193/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149780C>A , CM000669.2:g.44149780C>A	GRCh38
NC_000007.13:g.44189379C>A , CM000669.1:g.44189379C>A	GRCh37
NC_000007.12:g.44155904C>A	NCBI36
NG_008847.1:g.44644G>T
NG_008847.2:g.53391G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*657G>T	ENSP00000379142.4:n.*657G>T
ENST00000616242.5:c.659G>T	ENSP00000482149.2:p.Cys220Phe
ENST00000682635.1:n.1145G>T
ENST00000345378.7:c.662G>T	ENSP00000223366.2:p.Cys221Phe
ENST00000403799.8:c.659G>T MANE Select	ENSP00000384247.3:p.Cys220Phe
ENST00000671824.1:c.659G>T	ENSP00000500264.1:p.Cys220Phe
ENST00000673284.1:c.659G>T	ENSP00000499852.1:p.Cys220Phe
ENST00000345378.6:c.662G>T	ENSP00000223366.2:p.Cys221Phe
ENST00000395796.7:c.656G>T	ENSP00000379142.3:p.Cys219Phe
ENST00000403799.7:c.659G>T	ENSP00000384247.3:p.Cys220Phe
ENST00000437084.1:c.608G>T	ENSP00000402840.1:p.Cys203Phe
ENST00000616242.4:c.656G>T	ENSP00000482149.1:p.Cys219Phe
NM_000162.3:c.659G>T	NP_000153.1:p.Cys220Phe
NM_033507.1:c.662G>T	NP_277042.1:p.Cys221Phe
NM_033508.1:c.656G>T	NP_277043.1:p.Cys219Phe
NM_000162.4:c.659G>T	NP_000153.1:p.Cys220Phe
NM_001354800.1:c.659G>T	NP_001341729.1:p.Cys220Phe
NM_033507.2:c.662G>T	NP_277042.1:p.Cys221Phe
NM_033508.2:c.656G>T	NP_277043.1:p.Cys219Phe
NM_000162.5:c.659G>T MANE Select	NP_000153.1:p.Cys220Phe
NM_033507.3:c.662G>T	NP_277042.1:p.Cys221Phe
NM_033508.3:c.656G>T	NP_277043.1:p.Cys219Phe