Canonical Allele Identifier: CA213860

Gene: GCK

Linked Data

• ClinVar Variation Id: 36263
• ClinVar RCV Id: RCV000029926 ; RCV000521942 ; RCV002285138 ; RCV002490414
• dbSNP Id: rs193922335
• MyVariant Identifiers: chr7:g.44186210T>A (hg19) ; chr7:g.44146611T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146611T>A , CM000669.2:g.44146611T>A	GRCh38
NC_000007.13:g.44186210T>A , CM000669.1:g.44186210T>A	GRCh37
NC_000007.12:g.44152735T>A	NCBI36
NG_008847.1:g.47813A>T
NG_008847.2:g.56560A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*869A>T	ENSP00000379142.4:n.*869A>T
ENST00000616242.5:c.861A>T	ENSP00000482149.2:p.Arg287Ser
ENST00000683378.1:n.97A>T
ENST00000345378.7:c.874A>T	ENSP00000223366.2:p.Lys292Ter
ENST00000403799.8:c.871A>T MANE Select	ENSP00000384247.3:p.Lys291Ter
ENST00000671824.1:c.934A>T	ENSP00000500264.1:p.Lys312Ter
ENST00000673284.1:c.871A>T	ENSP00000499852.1:p.Lys291Ter
ENST00000345378.6:c.874A>T	ENSP00000223366.2:p.Lys292Ter
ENST00000395796.7:c.868A>T	ENSP00000379142.3:p.Lys290Ter
ENST00000403799.7:c.871A>T	ENSP00000384247.3:p.Lys291Ter
ENST00000437084.1:c.820A>T	ENSP00000402840.1:p.Lys274Ter
ENST00000473353.1:n.169A>T
ENST00000616242.4:c.868A>T	ENSP00000482149.1:p.Lys290Ter
NM_000162.3:c.871A>T	NP_000153.1:p.Lys291Ter
NM_033507.1:c.874A>T	NP_277042.1:p.Lys292Ter
NM_033508.1:c.868A>T	NP_277043.1:p.Lys290Ter
NM_000162.4:c.871A>T	NP_000153.1:p.Lys291Ter
NM_001354800.1:c.871A>T	NP_001341729.1:p.Lys291Ter
NM_001354801.1:c.8+8A>T	NP_001341730.1:n.8+8A>T
NM_033507.2:c.874A>T	NP_277042.1:p.Lys292Ter
NM_033508.2:c.868A>T	NP_277043.1:p.Lys290Ter
NM_000162.5:c.871A>T MANE Select	NP_000153.1:p.Lys291Ter
NM_033507.3:c.874A>T	NP_277042.1:p.Lys292Ter
NM_033508.3:c.868A>T	NP_277043.1:p.Lys290Ter