Canonical Allele Identifier: CA367399742

Gene: GCK

Linked Data

• dbSNP Id: rs1396992907
• gnomAD v2: 7-44186079-G-C
• gnomAD v4: 7-44146480-G-C
• MyVariant Identifiers: chr7:g.44186079G>C (hg19) ; chr7:g.44146480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146480G>C , CM000669.2:g.44146480G>C	GRCh38
NC_000007.13:g.44186079G>C , CM000669.1:g.44186079G>C	GRCh37
NC_000007.12:g.44152604G>C	NCBI36
NG_008847.1:g.47944C>G
NG_008847.2:g.56691C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1000C>G	ENSP00000379142.4:n.*1000C>G
ENST00000616242.5:c.*122C>G	ENSP00000482149.2:n.*122C>G
ENST00000683378.1:n.228C>G
ENST00000345378.7:c.1005C>G	ENSP00000223366.2:p.Phe335Leu
ENST00000403799.8:c.1002C>G MANE Select	ENSP00000384247.3:p.Phe334Leu
ENST00000671824.1:c.1065C>G	ENSP00000500264.1:p.Phe355Leu
ENST00000673284.1:c.1002C>G	ENSP00000499852.1:p.Phe334Leu
ENST00000345378.6:c.1005C>G	ENSP00000223366.2:p.Phe335Leu
ENST00000395796.7:c.999C>G	ENSP00000379142.3:p.Phe333Leu
ENST00000403799.7:c.1002C>G	ENSP00000384247.3:p.Phe334Leu
ENST00000437084.1:c.951C>G	ENSP00000402840.1:p.Phe317Leu
ENST00000473353.1:n.300C>G
ENST00000616242.4:c.999C>G	ENSP00000482149.1:p.Phe333Leu
NM_000162.3:c.1002C>G	NP_000153.1:p.Phe334Leu
NM_033507.1:c.1005C>G	NP_277042.1:p.Phe335Leu
NM_033508.1:c.999C>G	NP_277043.1:p.Phe333Leu
NM_000162.4:c.1002C>G	NP_000153.1:p.Phe334Leu
NM_001354800.1:c.1002C>G	NP_001341729.1:p.Phe334Leu
NM_001354801.1:c.8+139C>G	NP_001341730.1:n.8+139C>G
NM_033507.2:c.1005C>G	NP_277042.1:p.Phe335Leu
NM_033508.2:c.999C>G	NP_277043.1:p.Phe333Leu
NM_000162.5:c.1002C>G MANE Select	NP_000153.1:p.Phe334Leu
NM_033507.3:c.1005C>G	NP_277042.1:p.Phe335Leu
NM_033508.3:c.999C>G	NP_277043.1:p.Phe333Leu