Canonical Allele Identifier: CA213818

Gene: GCK

Linked Data

• ClinVar Variation Id: 36238
• ClinVar RCV Id: RCV000029901 ; RCV000421286
• dbSNP Id: rs144723656
• gnomAD v4: 7-44149794-G-C
• MyVariant Identifiers: chr7:g.44189393G>C (hg19) ; chr7:g.44149794G>C (hg38)
• PubMed: PMID:10753050 ; PMID:16731834

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149794G>C , CM000669.2:g.44149794G>C	GRCh38
NC_000007.13:g.44189393G>C , CM000669.1:g.44189393G>C	GRCh37
NC_000007.12:g.44155918G>C	NCBI36
NG_008847.1:g.44630C>G
NG_008847.2:g.53377C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*643C>G	ENSP00000379142.4:n.*643C>G
ENST00000616242.5:c.645C>G	ENSP00000482149.2:p.Tyr215Ter
ENST00000682635.1:n.1131C>G
ENST00000345378.7:c.648C>G	ENSP00000223366.2:p.Tyr216Ter
ENST00000403799.8:c.645C>G MANE Select	ENSP00000384247.3:p.Tyr215Ter
ENST00000671824.1:c.645C>G	ENSP00000500264.1:p.Tyr215Ter
ENST00000673284.1:c.645C>G	ENSP00000499852.1:p.Tyr215Ter
ENST00000345378.6:c.648C>G	ENSP00000223366.2:p.Tyr216Ter
ENST00000395796.7:c.642C>G	ENSP00000379142.3:p.Tyr214Ter
ENST00000403799.7:c.645C>G	ENSP00000384247.3:p.Tyr215Ter
ENST00000437084.1:c.594C>G	ENSP00000402840.1:p.Tyr198Ter
ENST00000616242.4:c.642C>G	ENSP00000482149.1:p.Tyr214Ter
NM_000162.3:c.645C>G	NP_000153.1:p.Tyr215Ter
NM_033507.1:c.648C>G	NP_277042.1:p.Tyr216Ter
NM_033508.1:c.642C>G	NP_277043.1:p.Tyr214Ter
NM_000162.4:c.645C>G	NP_000153.1:p.Tyr215Ter
NM_001354800.1:c.645C>G	NP_001341729.1:p.Tyr215Ter
NM_033507.2:c.648C>G	NP_277042.1:p.Tyr216Ter
NM_033508.2:c.642C>G	NP_277043.1:p.Tyr214Ter
NM_000162.5:c.645C>G MANE Select	NP_000153.1:p.Tyr215Ter
NM_033507.3:c.648C>G	NP_277042.1:p.Tyr216Ter
NM_033508.3:c.642C>G	NP_277043.1:p.Tyr214Ter