Canonical Allele Identifier: CA367403472

Gene: GCK

Linked Data

• ClinVar Variation Id: 804838
• ClinVar RCV Id: RCV000992040 ; RCV002464351
• dbSNP Id: rs1583604693
• gnomAD v4: 7-44153388-T-C
• MyVariant Identifiers: chr7:g.44192987T>C (hg19) ; chr7:g.44153388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153388T>C , CM000669.2:g.44153388T>C	GRCh38
NC_000007.13:g.44192987T>C , CM000669.1:g.44192987T>C	GRCh37
NC_000007.12:g.44159512T>C	NCBI36
NG_008847.1:g.41036A>G
NG_008847.2:g.49783A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*119A>G	ENSP00000379142.4:n.*119A>G
ENST00000616242.5:c.121A>G	ENSP00000482149.2:p.Met41Val
ENST00000682635.1:n.607A>G
ENST00000345378.7:c.124A>G	ENSP00000223366.2:p.Met42Val
ENST00000403799.8:c.121A>G MANE Select	ENSP00000384247.3:p.Met41Val
ENST00000671824.1:c.121A>G	ENSP00000500264.1:p.Met41Val
ENST00000673284.1:c.121A>G	ENSP00000499852.1:p.Met41Val
ENST00000345378.6:c.124A>G	ENSP00000223366.2:p.Met42Val
ENST00000395796.7:c.118A>G	ENSP00000379142.3:p.Met40Val
ENST00000403799.7:c.121A>G	ENSP00000384247.3:p.Met41Val
ENST00000437084.1:c.121A>G	ENSP00000402840.1:p.Met41Val
ENST00000616242.4:c.118A>G	ENSP00000482149.1:p.Met40Val
NM_000162.3:c.121A>G	NP_000153.1:p.Met41Val
NM_033507.1:c.124A>G	NP_277042.1:p.Met42Val
NM_033508.1:c.118A>G	NP_277043.1:p.Met40Val
NM_000162.4:c.121A>G	NP_000153.1:p.Met41Val
NM_001354800.1:c.121A>G	NP_001341729.1:p.Met41Val
NM_033507.2:c.124A>G	NP_277042.1:p.Met42Val
NM_033508.2:c.118A>G	NP_277043.1:p.Met40Val
NM_000162.5:c.121A>G MANE Select	NP_000153.1:p.Met41Val
NM_033507.3:c.124A>G	NP_277042.1:p.Met42Val
NM_033508.3:c.118A>G	NP_277043.1:p.Met40Val