Canonical Allele Identifier: CA367401397

Gene: GCK

Linked Data

• ClinVar Variation Id: 2136523
• ClinVar RCV Id: RCV003037219
• MyVariant Identifiers: chr7:g.44189440C>G (hg19) ; chr7:g.44149841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149841C>G , CM000669.2:g.44149841C>G	GRCh38
NC_000007.13:g.44189440C>G , CM000669.1:g.44189440C>G	GRCh37
NC_000007.12:g.44155965C>G	NCBI36
NG_008847.1:g.44583G>C
NG_008847.2:g.53330G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*596G>C	ENSP00000379142.4:n.*596G>C
ENST00000616242.5:c.598G>C	ENSP00000482149.2:p.Val200Leu
ENST00000682635.1:n.1084G>C
ENST00000345378.7:c.601G>C	ENSP00000223366.2:p.Val201Leu
ENST00000403799.8:c.598G>C MANE Select	ENSP00000384247.3:p.Val200Leu
ENST00000671824.1:c.598G>C	ENSP00000500264.1:p.Val200Leu
ENST00000673284.1:c.598G>C	ENSP00000499852.1:p.Val200Leu
ENST00000345378.6:c.601G>C	ENSP00000223366.2:p.Val201Leu
ENST00000395796.7:c.595G>C	ENSP00000379142.3:p.Val199Leu
ENST00000403799.7:c.598G>C	ENSP00000384247.3:p.Val200Leu
ENST00000437084.1:c.547G>C	ENSP00000402840.1:p.Val183Leu
ENST00000616242.4:c.595G>C	ENSP00000482149.1:p.Val199Leu
NM_000162.3:c.598G>C	NP_000153.1:p.Val200Leu
NM_033507.1:c.601G>C	NP_277042.1:p.Val201Leu
NM_033508.1:c.595G>C	NP_277043.1:p.Val199Leu
NM_000162.4:c.598G>C	NP_000153.1:p.Val200Leu
NM_001354800.1:c.598G>C	NP_001341729.1:p.Val200Leu
NM_033507.2:c.601G>C	NP_277042.1:p.Val201Leu
NM_033508.2:c.595G>C	NP_277043.1:p.Val199Leu
NM_000162.5:c.598G>C MANE Select	NP_000153.1:p.Val200Leu
NM_033507.3:c.601G>C	NP_277042.1:p.Val201Leu
NM_033508.3:c.595G>C	NP_277043.1:p.Val199Leu