Canonical Allele Identifier: CA367397256

Gene: GCK

Linked Data

• ClinVar Variation Id: 447389
• ClinVar RCV Id: RCV000516995 ; RCV004527383
• dbSNP Id: rs193922273
• MyVariant Identifiers: chr7:g.44184865A>G (hg19) ; chr7:g.44145266A>G (hg38)
• PubMed: PMID:25555642
• ERepo: CA367397256/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145266A>G , CM000669.2:g.44145266A>G	GRCh38
NC_000007.13:g.44184865A>G , CM000669.1:g.44184865A>G	GRCh37
NC_000007.12:g.44151390A>G	NCBI36
NG_008847.1:g.49158T>C
NG_008847.2:g.57905T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1266T>C	ENSP00000379142.4:n.*1266T>C
ENST00000616242.5:c.*388T>C	ENSP00000482149.2:n.*388T>C
ENST00000683378.1:n.494T>C
ENST00000336642.9:c.302T>C	ENSP00000338009.5:p.Phe101Ser
ENST00000345378.7:c.1271T>C	ENSP00000223366.2:p.Phe424Ser
ENST00000403799.8:c.1268T>C MANE Select	ENSP00000384247.3:p.Phe423Ser
ENST00000671824.1:c.1331T>C	ENSP00000500264.1:p.Phe444Ser
ENST00000672743.1:n.280T>C
ENST00000673284.1:c.1268T>C	ENSP00000499852.1:p.Phe423Ser
ENST00000336642.8:c.320T>C	ENSP00000338009.4:p.Phe107Ser
ENST00000345378.6:c.1271T>C	ENSP00000223366.2:p.Phe424Ser
ENST00000395796.7:c.1265T>C	ENSP00000379142.3:p.Phe422Ser
ENST00000403799.7:c.1268T>C	ENSP00000384247.3:p.Phe423Ser
ENST00000437084.1:c.1217T>C	ENSP00000402840.1:p.Phe406Ser
ENST00000459642.1:n.648T>C
ENST00000616242.4:c.1265T>C	ENSP00000482149.1:p.Phe422Ser
NM_000162.3:c.1268T>C	NP_000153.1:p.Phe423Ser
NM_033507.1:c.1271T>C	NP_277042.1:p.Phe424Ser
NM_033508.1:c.1265T>C	NP_277043.1:p.Phe422Ser
NM_000162.4:c.1268T>C	NP_000153.1:p.Phe423Ser
NM_001354800.1:c.1268T>C	NP_001341729.1:p.Phe423Ser
NM_001354801.1:c.257T>C	NP_001341730.1:p.Phe86Ser
NM_001354802.1:c.128T>C	NP_001341731.1:p.Phe43Ser
NM_001354803.1:c.302T>C	NP_001341732.1:p.Phe101Ser
NM_033507.2:c.1271T>C	NP_277042.1:p.Phe424Ser
NM_033508.2:c.1265T>C	NP_277043.1:p.Phe422Ser
XM_024446707.1:c.128T>C	XP_024302475.1:p.Phe43Ser
NM_000162.5:c.1268T>C MANE Select	NP_000153.1:p.Phe423Ser
NM_033507.3:c.1271T>C	NP_277042.1:p.Phe424Ser
NM_033508.3:c.1265T>C	NP_277043.1:p.Phe422Ser
NM_001354803.2:c.302T>C	NP_001341732.1:p.Phe101Ser