Canonical Allele Identifier: CA367398790

Gene: GCK

Linked Data

• ClinVar Variation Id: 804834
• ClinVar RCV Id: RCV000992036 ; RCV003883165
• dbSNP Id: rs193922265
• gnomAD v4: 7-44145614-G-A
• MyVariant Identifiers: chr7:g.44185213G>A (hg19) ; chr7:g.44145614G>A (hg38)
• ERepo: CA367398790/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145614G>A , CM000669.2:g.44145614G>A	GRCh38
NC_000007.13:g.44185213G>A , CM000669.1:g.44185213G>A	GRCh37
NC_000007.12:g.44151738G>A	NCBI36
NG_008847.1:g.48810C>T
NG_008847.2:g.57557C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1134C>T	ENSP00000379142.4:n.*1134C>T
ENST00000616242.5:c.*256C>T	ENSP00000482149.2:n.*256C>T
ENST00000683378.1:n.362C>T
ENST00000336642.9:c.170C>T	ENSP00000338009.5:p.Ala57Val
ENST00000345378.7:c.1139C>T	ENSP00000223366.2:p.Ala380Val
ENST00000403799.8:c.1136C>T MANE Select	ENSP00000384247.3:p.Ala379Val
ENST00000671824.1:c.1199C>T	ENSP00000500264.1:p.Ala400Val
ENST00000672743.1:n.148C>T
ENST00000673284.1:c.1136C>T	ENSP00000499852.1:p.Ala379Val
ENST00000336642.8:c.188C>T	ENSP00000338009.4:p.Ala63Val
ENST00000345378.6:c.1139C>T	ENSP00000223366.2:p.Ala380Val
ENST00000395796.7:c.1133C>T	ENSP00000379142.3:p.Ala378Val
ENST00000403799.7:c.1136C>T	ENSP00000384247.3:p.Ala379Val
ENST00000437084.1:c.1085C>T	ENSP00000402840.1:p.Ala362Val
ENST00000459642.1:n.516C>T
ENST00000616242.4:c.1133C>T	ENSP00000482149.1:p.Ala378Val
NM_000162.3:c.1136C>T	NP_000153.1:p.Ala379Val
NM_033507.1:c.1139C>T	NP_277042.1:p.Ala380Val
NM_033508.1:c.1133C>T	NP_277043.1:p.Ala378Val
NM_000162.4:c.1136C>T	NP_000153.1:p.Ala379Val
NM_001354800.1:c.1136C>T	NP_001341729.1:p.Ala379Val
NM_001354801.1:c.125C>T	NP_001341730.1:p.Ala42Val
NM_001354802.1:c.-5C>T	NP_001341731.1:n.-5C>T
NM_001354803.1:c.170C>T	NP_001341732.1:p.Ala57Val
NM_033507.2:c.1139C>T	NP_277042.1:p.Ala380Val
NM_033508.2:c.1133C>T	NP_277043.1:p.Ala378Val
XM_024446707.1:c.-5C>T	XP_024302475.1:n.-5C>T
NM_000162.5:c.1136C>T MANE Select	NP_000153.1:p.Ala379Val
NM_033507.3:c.1139C>T	NP_277042.1:p.Ala380Val
NM_033508.3:c.1133C>T	NP_277043.1:p.Ala378Val
NM_001354803.2:c.170C>T	NP_001341732.1:p.Ala57Val