Canonical Allele Identifier: CA454606568

Gene: GCK

Linked Data

• ClinVar Variation Id: 515200
• ClinVar RCV Id: RCV000604671 ; RCV002463721 ; RCV003493681
• dbSNP Id: rs1554334455
• gnomAD v4: 7-44145217-G-A
• MyVariant Identifiers: chr7:g.44184816G>A (hg19) ; chr7:g.44145217G>A (hg38)
• ERepo: CA454606568/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145217G>A , CM000669.2:g.44145217G>A	GRCh38
NC_000007.13:g.44184816G>A , CM000669.1:g.44184816G>A	GRCh37
NC_000007.12:g.44151341G>A	NCBI36
NG_008847.1:g.49207C>T
NG_008847.2:g.57954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1315C>T	ENSP00000379142.4:n.*1315C>T
ENST00000616242.5:c.*437C>T	ENSP00000482149.2:n.*437C>T
ENST00000683378.1:n.543C>T
ENST00000336642.9:c.351C>T	ENSP00000338009.5:p.Ile117=
ENST00000345378.7:c.1320C>T	ENSP00000223366.2:p.Ile440=
ENST00000403799.8:c.1317C>T MANE Select	ENSP00000384247.3:p.Ile439=
ENST00000671824.1:c.1380C>T	ENSP00000500264.1:p.Ile460=
ENST00000672743.1:n.329C>T
ENST00000673284.1:c.1317C>T	ENSP00000499852.1:p.Ile439=
ENST00000336642.8:c.369C>T	ENSP00000338009.4:p.Ile123=
ENST00000345378.6:c.1320C>T	ENSP00000223366.2:p.Ile440=
ENST00000395796.7:c.1314C>T	ENSP00000379142.3:p.Ile438=
ENST00000403799.7:c.1317C>T	ENSP00000384247.3:p.Ile439=
ENST00000437084.1:c.1266C>T	ENSP00000402840.1:p.Ile422=
ENST00000459642.1:n.697C>T
ENST00000616242.4:c.1314C>T	ENSP00000482149.1:p.Ile438=
NM_000162.3:c.1317C>T	NP_000153.1:p.Ile439=
NM_033507.1:c.1320C>T	NP_277042.1:p.Ile440=
NM_033508.1:c.1314C>T	NP_277043.1:p.Ile438=
NM_000162.4:c.1317C>T	NP_000153.1:p.Ile439=
NM_001354800.1:c.1317C>T	NP_001341729.1:p.Ile439=
NM_001354801.1:c.306C>T	NP_001341730.1:p.Ile102=
NM_001354802.1:c.177C>T	NP_001341731.1:p.Ile59=
NM_001354803.1:c.351C>T	NP_001341732.1:p.Ile117=
NM_033507.2:c.1320C>T	NP_277042.1:p.Ile440=
NM_033508.2:c.1314C>T	NP_277043.1:p.Ile438=
XM_024446707.1:c.177C>T	XP_024302475.1:p.Ile59=
NM_000162.5:c.1317C>T MANE Select	NP_000153.1:p.Ile439=
NM_033507.3:c.1320C>T	NP_277042.1:p.Ile440=
NM_033508.3:c.1314C>T	NP_277043.1:p.Ile438=
NM_001354803.2:c.351C>T	NP_001341732.1:p.Ile117=