Canonical Allele Identifier: CA454607843

Gene: GCK

Linked Data

• dbSNP Id: rs145764627
• gnomAD v3: 7-44146528-C-A
• gnomAD v4: 7-44146528-C-A
• MyVariant Identifiers: chr7:g.44186127C>A (hg19) ; chr7:g.44146528C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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