Canonical Allele Identifier: CA213874

Gene: GCK

Linked Data

• ClinVar Variation Id: 36270
• ClinVar RCV Id: RCV000029933 ; RCV003482232
• dbSNP Id: rs193922341
• gnomAD v4: 7-44146511-A-G
• MyVariant Identifiers: chr7:g.44186110A>G (hg19) ; chr7:g.44146511A>G (hg38)
• PubMed: PMID:15305805

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146511A>G , CM000669.2:g.44146511A>G	GRCh38
NC_000007.13:g.44186110A>G , CM000669.1:g.44186110A>G	GRCh37
NC_000007.12:g.44152635A>G	NCBI36
NG_008847.1:g.47913T>C
NG_008847.2:g.56660T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*969T>C	ENSP00000379142.4:n.*969T>C
ENST00000616242.5:c.*91T>C	ENSP00000482149.2:n.*91T>C
ENST00000683378.1:n.197T>C
ENST00000345378.7:c.974T>C	ENSP00000223366.2:p.Leu325Pro
ENST00000403799.8:c.971T>C MANE Select	ENSP00000384247.3:p.Leu324Pro
ENST00000671824.1:c.1034T>C	ENSP00000500264.1:p.Leu345Pro
ENST00000673284.1:c.971T>C	ENSP00000499852.1:p.Leu324Pro
ENST00000345378.6:c.974T>C	ENSP00000223366.2:p.Leu325Pro
ENST00000395796.7:c.968T>C	ENSP00000379142.3:p.Leu323Pro
ENST00000403799.7:c.971T>C	ENSP00000384247.3:p.Leu324Pro
ENST00000437084.1:c.920T>C	ENSP00000402840.1:p.Leu307Pro
ENST00000473353.1:n.269T>C
ENST00000616242.4:c.968T>C	ENSP00000482149.1:p.Leu323Pro
NM_000162.3:c.971T>C	NP_000153.1:p.Leu324Pro
NM_033507.1:c.974T>C	NP_277042.1:p.Leu325Pro
NM_033508.1:c.968T>C	NP_277043.1:p.Leu323Pro
NM_000162.4:c.971T>C	NP_000153.1:p.Leu324Pro
NM_001354800.1:c.971T>C	NP_001341729.1:p.Leu324Pro
NM_001354801.1:c.8+108T>C	NP_001341730.1:n.8+108T>C
NM_033507.2:c.974T>C	NP_277042.1:p.Leu325Pro
NM_033508.2:c.968T>C	NP_277043.1:p.Leu323Pro
NM_000162.5:c.971T>C MANE Select	NP_000153.1:p.Leu324Pro
NM_033507.3:c.974T>C	NP_277042.1:p.Leu325Pro
NM_033508.3:c.968T>C	NP_277043.1:p.Leu323Pro