Canonical Allele Identifier: CA367401423

Gene: GCK

Linked Data

• gnomAD v4: 7-44149847-C-T
• COSMIC: COSM4848101 ; COSM4848102 ; COSM4848103
• MyVariant Identifiers: chr7:g.44189446C>T (hg19) ; chr7:g.44149847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149847C>T , CM000669.2:g.44149847C>T	GRCh38
NC_000007.13:g.44189446C>T , CM000669.1:g.44189446C>T	GRCh37
NC_000007.12:g.44155971C>T	NCBI36
NG_008847.1:g.44577G>A
NG_008847.2:g.53324G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*590G>A	ENSP00000379142.4:n.*590G>A
ENST00000616242.5:c.592G>A	ENSP00000482149.2:p.Asp198Asn
ENST00000682635.1:n.1078G>A
ENST00000345378.7:c.595G>A	ENSP00000223366.2:p.Asp199Asn
ENST00000403799.8:c.592G>A MANE Select	ENSP00000384247.3:p.Asp198Asn
ENST00000671824.1:c.592G>A	ENSP00000500264.1:p.Asp198Asn
ENST00000673284.1:c.592G>A	ENSP00000499852.1:p.Asp198Asn
ENST00000345378.6:c.595G>A	ENSP00000223366.2:p.Asp199Asn
ENST00000395796.7:c.589G>A	ENSP00000379142.3:p.Asp197Asn
ENST00000403799.7:c.592G>A	ENSP00000384247.3:p.Asp198Asn
ENST00000437084.1:c.541G>A	ENSP00000402840.1:p.Asp181Asn
ENST00000616242.4:c.589G>A	ENSP00000482149.1:p.Asp197Asn
NM_000162.3:c.592G>A	NP_000153.1:p.Asp198Asn
NM_033507.1:c.595G>A	NP_277042.1:p.Asp199Asn
NM_033508.1:c.589G>A	NP_277043.1:p.Asp197Asn
NM_000162.4:c.592G>A	NP_000153.1:p.Asp198Asn
NM_001354800.1:c.592G>A	NP_001341729.1:p.Asp198Asn
NM_033507.2:c.595G>A	NP_277042.1:p.Asp199Asn
NM_033508.2:c.589G>A	NP_277043.1:p.Asp197Asn
NM_000162.5:c.592G>A MANE Select	NP_000153.1:p.Asp198Asn
NM_033507.3:c.595G>A	NP_277042.1:p.Asp199Asn
NM_033508.3:c.589G>A	NP_277043.1:p.Asp197Asn