Canonical Allele Identifier: CA213820

Gene: GCK

Linked Data

• ClinVar Variation Id: 36239
• ClinVar RCV Id: RCV000029902 ; RCV003445085
• dbSNP Id: rs193922315
• MyVariant Identifiers: chr7:g.44189380A>G (hg19) ; chr7:g.44149781A>G (hg38)
• ERepo: CA213820/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149781A>G , CM000669.2:g.44149781A>G	GRCh38
NC_000007.13:g.44189380A>G , CM000669.1:g.44189380A>G	GRCh37
NC_000007.12:g.44155905A>G	NCBI36
NG_008847.1:g.44643T>C
NG_008847.2:g.53390T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*656T>C	ENSP00000379142.4:n.*656T>C
ENST00000616242.5:c.658T>C	ENSP00000482149.2:p.Cys220Arg
ENST00000682635.1:n.1144T>C
ENST00000345378.7:c.661T>C	ENSP00000223366.2:p.Cys221Arg
ENST00000403799.8:c.658T>C MANE Select	ENSP00000384247.3:p.Cys220Arg
ENST00000671824.1:c.658T>C	ENSP00000500264.1:p.Cys220Arg
ENST00000673284.1:c.658T>C	ENSP00000499852.1:p.Cys220Arg
ENST00000345378.6:c.661T>C	ENSP00000223366.2:p.Cys221Arg
ENST00000395796.7:c.655T>C	ENSP00000379142.3:p.Cys219Arg
ENST00000403799.7:c.658T>C	ENSP00000384247.3:p.Cys220Arg
ENST00000437084.1:c.607T>C	ENSP00000402840.1:p.Cys203Arg
ENST00000616242.4:c.655T>C	ENSP00000482149.1:p.Cys219Arg
NM_000162.3:c.658T>C	NP_000153.1:p.Cys220Arg
NM_033507.1:c.661T>C	NP_277042.1:p.Cys221Arg
NM_033508.1:c.655T>C	NP_277043.1:p.Cys219Arg
NM_000162.4:c.658T>C	NP_000153.1:p.Cys220Arg
NM_001354800.1:c.658T>C	NP_001341729.1:p.Cys220Arg
NM_033507.2:c.661T>C	NP_277042.1:p.Cys221Arg
NM_033508.2:c.655T>C	NP_277043.1:p.Cys219Arg
NM_000162.5:c.658T>C MANE Select	NP_000153.1:p.Cys220Arg
NM_033507.3:c.661T>C	NP_277042.1:p.Cys221Arg
NM_033508.3:c.655T>C	NP_277043.1:p.Cys219Arg