Canonical Allele Identifier: CA157914514

Gene: GCK

Linked Data

• ClinVar Variation Id: 2496645
• ClinVar RCV Id: RCV003221248
• dbSNP Id: rs1007314573
• gnomAD v2: 7-44186160-G-C
• gnomAD v4: 7-44146561-G-C
• COSMIC: COSM5976393 ; COSM5976394 ; COSM5976395
• MyVariant Identifiers: chr7:g.44186160G>C (hg19) ; chr7:g.44146561G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146561G>C , CM000669.2:g.44146561G>C	GRCh38
NC_000007.13:g.44186160G>C , CM000669.1:g.44186160G>C	GRCh37
NC_000007.12:g.44152685G>C	NCBI36
NG_008847.1:g.47863C>G
NG_008847.2:g.56610C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*919C>G	ENSP00000379142.4:n.*919C>G
ENST00000616242.5:c.*41C>G	ENSP00000482149.2:n.*41C>G
ENST00000683378.1:n.147C>G
ENST00000345378.7:c.924C>G	ENSP00000223366.2:p.Leu308=
ENST00000403799.8:c.921C>G MANE Select	ENSP00000384247.3:p.Leu307=
ENST00000671824.1:c.984C>G	ENSP00000500264.1:p.Leu328=
ENST00000673284.1:c.921C>G	ENSP00000499852.1:p.Leu307=
ENST00000345378.6:c.924C>G	ENSP00000223366.2:p.Leu308=
ENST00000395796.7:c.918C>G	ENSP00000379142.3:p.Leu306=
ENST00000403799.7:c.921C>G	ENSP00000384247.3:p.Leu307=
ENST00000437084.1:c.870C>G	ENSP00000402840.1:p.Leu290=
ENST00000473353.1:n.219C>G
ENST00000616242.4:c.918C>G	ENSP00000482149.1:p.Leu306=
NM_000162.3:c.921C>G	NP_000153.1:p.Leu307=
NM_033507.1:c.924C>G	NP_277042.1:p.Leu308=
NM_033508.1:c.918C>G	NP_277043.1:p.Leu306=
NM_000162.4:c.921C>G	NP_000153.1:p.Leu307=
NM_001354800.1:c.921C>G	NP_001341729.1:p.Leu307=
NM_001354801.1:c.8+58C>G	NP_001341730.1:n.8+58C>G
NM_033507.2:c.924C>G	NP_277042.1:p.Leu308=
NM_033508.2:c.918C>G	NP_277043.1:p.Leu306=
NM_000162.5:c.921C>G MANE Select	NP_000153.1:p.Leu307=
NM_033507.3:c.924C>G	NP_277042.1:p.Leu308=
NM_033508.3:c.918C>G	NP_277043.1:p.Leu306=