Canonical Allele Identifier: CA367403437

Gene: GCK

Linked Data

• ClinVar Variation Id: 429796
• ClinVar RCV Id: RCV002465692
• dbSNP Id: rs1131691598
• gnomAD v4: 7-44153375-A-G
• MyVariant Identifiers: chr7:g.44192974A>G (hg19) ; chr7:g.44153375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153375A>G , CM000669.2:g.44153375A>G	GRCh38
NC_000007.13:g.44192974A>G , CM000669.1:g.44192974A>G	GRCh37
NC_000007.12:g.44159499A>G	NCBI36
NG_008847.1:g.41049T>C
NG_008847.2:g.49796T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*132T>C	ENSP00000379142.4:n.*132T>C
ENST00000616242.5:c.134T>C	ENSP00000482149.2:p.Leu45Pro
ENST00000682635.1:n.620T>C
ENST00000345378.7:c.137T>C	ENSP00000223366.2:p.Leu46Pro
ENST00000403799.8:c.134T>C MANE Select	ENSP00000384247.3:p.Leu45Pro
ENST00000671824.1:c.134T>C	ENSP00000500264.1:p.Leu45Pro
ENST00000673284.1:c.134T>C	ENSP00000499852.1:p.Leu45Pro
ENST00000345378.6:c.137T>C	ENSP00000223366.2:p.Leu46Pro
ENST00000395796.7:c.131T>C	ENSP00000379142.3:p.Leu44Pro
ENST00000403799.7:c.134T>C	ENSP00000384247.3:p.Leu45Pro
ENST00000437084.1:c.134T>C	ENSP00000402840.1:p.Leu45Pro
ENST00000616242.4:c.131T>C	ENSP00000482149.1:p.Leu44Pro
NM_000162.3:c.134T>C	NP_000153.1:p.Leu45Pro
NM_033507.1:c.137T>C	NP_277042.1:p.Leu46Pro
NM_033508.1:c.131T>C	NP_277043.1:p.Leu44Pro
NM_000162.4:c.134T>C	NP_000153.1:p.Leu45Pro
NM_001354800.1:c.134T>C	NP_001341729.1:p.Leu45Pro
NM_033507.2:c.137T>C	NP_277042.1:p.Leu46Pro
NM_033508.2:c.131T>C	NP_277043.1:p.Leu44Pro
NM_000162.5:c.134T>C MANE Select	NP_000153.1:p.Leu45Pro
NM_033507.3:c.137T>C	NP_277042.1:p.Leu46Pro
NM_033508.3:c.131T>C	NP_277043.1:p.Leu44Pro