Canonical Allele Identifier: CA367398984

Gene: GCK

Linked Data

• gnomAD v4: 7-44145648-G-A
• MyVariant Identifiers: chr7:g.44185247G>A (hg19) ; chr7:g.44145648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145648G>A , CM000669.2:g.44145648G>A	GRCh38
NC_000007.13:g.44185247G>A , CM000669.1:g.44185247G>A	GRCh37
NC_000007.12:g.44151772G>A	NCBI36
NG_008847.1:g.48776C>T
NG_008847.2:g.57523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1100C>T	ENSP00000379142.4:n.*1100C>T
ENST00000616242.5:c.*222C>T	ENSP00000482149.2:n.*222C>T
ENST00000683378.1:n.328C>T
ENST00000336642.9:c.136C>T	ENSP00000338009.5:p.Arg46Cys
ENST00000345378.7:c.1105C>T	ENSP00000223366.2:p.Arg369Cys
ENST00000403799.8:c.1102C>T MANE Select	ENSP00000384247.3:p.Arg368Cys
ENST00000671824.1:c.1165C>T	ENSP00000500264.1:p.Arg389Cys
ENST00000672743.1:n.114C>T
ENST00000673284.1:c.1102C>T	ENSP00000499852.1:p.Arg368Cys
ENST00000336642.8:c.154C>T	ENSP00000338009.4:p.Arg52Cys
ENST00000345378.6:c.1105C>T	ENSP00000223366.2:p.Arg369Cys
ENST00000395796.7:c.1099C>T	ENSP00000379142.3:p.Arg367Cys
ENST00000403799.7:c.1102C>T	ENSP00000384247.3:p.Arg368Cys
ENST00000437084.1:c.1051C>T	ENSP00000402840.1:p.Arg351Cys
ENST00000459642.1:n.482C>T
ENST00000473353.1:n.400C>T
ENST00000616242.4:c.1099C>T	ENSP00000482149.1:p.Arg367Cys
NM_000162.3:c.1102C>T	NP_000153.1:p.Arg368Cys
NM_033507.1:c.1105C>T	NP_277042.1:p.Arg369Cys
NM_033508.1:c.1099C>T	NP_277043.1:p.Arg367Cys
NM_000162.4:c.1102C>T	NP_000153.1:p.Arg368Cys
NM_001354800.1:c.1102C>T	NP_001341729.1:p.Arg368Cys
NM_001354801.1:c.91C>T	NP_001341730.1:p.Arg31Cys
NM_001354802.1:c.-39C>T	NP_001341731.1:n.-39C>T
NM_001354803.1:c.136C>T	NP_001341732.1:p.Arg46Cys
NM_033507.2:c.1105C>T	NP_277042.1:p.Arg369Cys
NM_033508.2:c.1099C>T	NP_277043.1:p.Arg367Cys
XM_024446707.1:c.-39C>T	XP_024302475.1:n.-39C>T
NM_000162.5:c.1102C>T MANE Select	NP_000153.1:p.Arg368Cys
NM_033507.3:c.1105C>T	NP_277042.1:p.Arg369Cys
NM_033508.3:c.1099C>T	NP_277043.1:p.Arg367Cys
NM_001354803.2:c.136C>T	NP_001341732.1:p.Arg46Cys