Canonical Allele Identifier: CA213872

Gene: GCK

Linked Data

• ClinVar Variation Id: 36269
• ClinVar RCV Id: RCV000029932 ; RCV000250733 ; RCV000896007 ; RCV002326692 ; RCV002504830
• dbSNP Id: rs145764627
• ExAC: 7:44186127 C / G
• gnomAD v2: 7-44186127-C-G
• gnomAD v3: 7-44146528-C-G
• gnomAD v4: 7-44146528-C-G
• MyVariant Identifiers: chr7:g.44186127C>G (hg19) ; chr7:g.44146528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146528C>G , CM000669.2:g.44146528C>G	GRCh38
NC_000007.13:g.44186127C>G , CM000669.1:g.44186127C>G	GRCh37
NC_000007.12:g.44152652C>G	NCBI36
NG_008847.1:g.47896G>C
NG_008847.2:g.56643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*952G>C	ENSP00000379142.4:n.*952G>C
ENST00000616242.5:c.*74G>C	ENSP00000482149.2:n.*74G>C
ENST00000683378.1:n.180G>C
ENST00000345378.7:c.957G>C	ENSP00000223366.2:p.Gly319=
ENST00000403799.8:c.954G>C MANE Select	ENSP00000384247.3:p.Gly318=
ENST00000671824.1:c.1017G>C	ENSP00000500264.1:p.Gly339=
ENST00000673284.1:c.954G>C	ENSP00000499852.1:p.Gly318=
ENST00000345378.6:c.957G>C	ENSP00000223366.2:p.Gly319=
ENST00000395796.7:c.951G>C	ENSP00000379142.3:p.Gly317=
ENST00000403799.7:c.954G>C	ENSP00000384247.3:p.Gly318=
ENST00000437084.1:c.903G>C	ENSP00000402840.1:p.Gly301=
ENST00000473353.1:n.252G>C
ENST00000616242.4:c.951G>C	ENSP00000482149.1:p.Gly317=
NM_000162.3:c.954G>C	NP_000153.1:p.Gly318=
NM_033507.1:c.957G>C	NP_277042.1:p.Gly319=
NM_033508.1:c.951G>C	NP_277043.1:p.Gly317=
NM_000162.4:c.954G>C	NP_000153.1:p.Gly318=
NM_001354800.1:c.954G>C	NP_001341729.1:p.Gly318=
NM_001354801.1:c.8+91G>C	NP_001341730.1:n.8+91G>C
NM_033507.2:c.957G>C	NP_277042.1:p.Gly319=
NM_033508.2:c.951G>C	NP_277043.1:p.Gly317=
NM_000162.5:c.954G>C MANE Select	NP_000153.1:p.Gly318=
NM_033507.3:c.957G>C	NP_277042.1:p.Gly319=
NM_033508.3:c.951G>C	NP_277043.1:p.Gly317=