Canonical Allele Identifier: CA454607720

Gene: GCK

Linked Data

• gnomAD v4: 7-44146471-C-T
• MyVariant Identifiers: chr7:g.44186070C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146471C>T , CM000669.2:g.44146471C>T	GRCh38
NC_000007.13:g.44186070C>T , CM000669.1:g.44186070C>T	GRCh37
NC_000007.12:g.44152595C>T	NCBI36
NG_008847.1:g.47953G>A
NG_008847.2:g.56700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1009G>A	ENSP00000379142.4:n.*1009G>A
ENST00000616242.5:c.*131G>A	ENSP00000482149.2:n.*131G>A
ENST00000683378.1:n.237G>A
ENST00000345378.7:c.1014G>A	ENSP00000223366.2:p.Gln338=
ENST00000403799.8:c.1011G>A MANE Select	ENSP00000384247.3:p.Gln337=
ENST00000671824.1:c.1074G>A	ENSP00000500264.1:p.Gln358=
ENST00000673284.1:c.1011G>A	ENSP00000499852.1:p.Gln337=
ENST00000345378.6:c.1014G>A	ENSP00000223366.2:p.Gln338=
ENST00000395796.7:c.1008G>A	ENSP00000379142.3:p.Gln336=
ENST00000403799.7:c.1011G>A	ENSP00000384247.3:p.Gln337=
ENST00000437084.1:c.960G>A	ENSP00000402840.1:p.Gln320=
ENST00000473353.1:n.309G>A
ENST00000616242.4:c.1008G>A	ENSP00000482149.1:p.Gln336=
NM_000162.3:c.1011G>A	NP_000153.1:p.Gln337=
NM_033507.1:c.1014G>A	NP_277042.1:p.Gln338=
NM_033508.1:c.1008G>A	NP_277043.1:p.Gln336=
NM_000162.4:c.1011G>A	NP_000153.1:p.Gln337=
NM_001354800.1:c.1011G>A	NP_001341729.1:p.Gln337=
NM_001354801.1:c.8+148G>A	NP_001341730.1:n.8+148G>A
NM_033507.2:c.1014G>A	NP_277042.1:p.Gln338=
NM_033508.2:c.1008G>A	NP_277043.1:p.Gln336=
NM_000162.5:c.1011G>A MANE Select	NP_000153.1:p.Gln337=
NM_033507.3:c.1014G>A	NP_277042.1:p.Gln338=
NM_033508.3:c.1008G>A	NP_277043.1:p.Gln336=