Canonical Allele Identifier: CA213810

Gene: GCK

Linked Data

• ClinVar Variation Id: 36233
• ClinVar RCV Id: RCV000029896 ; RCV000711779 ; RCV003445084
• dbSNP Id: rs193922311
• ExAC: 7:44189433 A / G
• gnomAD v2: 7-44189433-A-G
• gnomAD v4: 7-44149834-A-G
• MyVariant Identifiers: chr7:g.44189433A>G (hg19) ; chr7:g.44149834A>G (hg38)
• ERepo: CA213810/MONDO:0015967/086
• PubMed: PMID:17573900 ; PMID:17937063

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149834A>G , CM000669.2:g.44149834A>G	GRCh38
NC_000007.13:g.44189433A>G , CM000669.1:g.44189433A>G	GRCh37
NC_000007.12:g.44155958A>G	NCBI36
NG_008847.1:g.44590T>C
NG_008847.2:g.53337T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*603T>C	ENSP00000379142.4:n.*603T>C
ENST00000616242.5:c.605T>C	ENSP00000482149.2:p.Met202Thr
ENST00000682635.1:n.1091T>C
ENST00000345378.7:c.608T>C	ENSP00000223366.2:p.Met203Thr
ENST00000403799.8:c.605T>C MANE Select	ENSP00000384247.3:p.Met202Thr
ENST00000671824.1:c.605T>C	ENSP00000500264.1:p.Met202Thr
ENST00000673284.1:c.605T>C	ENSP00000499852.1:p.Met202Thr
ENST00000345378.6:c.608T>C	ENSP00000223366.2:p.Met203Thr
ENST00000395796.7:c.602T>C	ENSP00000379142.3:p.Met201Thr
ENST00000403799.7:c.605T>C	ENSP00000384247.3:p.Met202Thr
ENST00000437084.1:c.554T>C	ENSP00000402840.1:p.Met185Thr
ENST00000616242.4:c.602T>C	ENSP00000482149.1:p.Met201Thr
NM_000162.3:c.605T>C	NP_000153.1:p.Met202Thr
NM_033507.1:c.608T>C	NP_277042.1:p.Met203Thr
NM_033508.1:c.602T>C	NP_277043.1:p.Met201Thr
NM_000162.4:c.605T>C	NP_000153.1:p.Met202Thr
NM_001354800.1:c.605T>C	NP_001341729.1:p.Met202Thr
NM_033507.2:c.608T>C	NP_277042.1:p.Met203Thr
NM_033508.2:c.602T>C	NP_277043.1:p.Met201Thr
NM_000162.5:c.605T>C MANE Select	NP_000153.1:p.Met202Thr
NM_033507.3:c.608T>C	NP_277042.1:p.Met203Thr
NM_033508.3:c.602T>C	NP_277043.1:p.Met201Thr