Canonical Allele Identifier: CA454607885

Gene: GCK

Linked Data

• gnomAD v4: 7-44146549-G-A
• MyVariant Identifiers: chr7:g.44186148G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146549G>A , CM000669.2:g.44146549G>A	GRCh38
NC_000007.13:g.44186148G>A , CM000669.1:g.44186148G>A	GRCh37
NC_000007.12:g.44152673G>A	NCBI36
NG_008847.1:g.47875C>T
NG_008847.2:g.56622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*931C>T	ENSP00000379142.4:n.*931C>T
ENST00000616242.5:c.*53C>T	ENSP00000482149.2:n.*53C>T
ENST00000683378.1:n.159C>T
ENST00000345378.7:c.936C>T	ENSP00000223366.2:p.Asp312=
ENST00000403799.8:c.933C>T MANE Select	ENSP00000384247.3:p.Asp311=
ENST00000671824.1:c.996C>T	ENSP00000500264.1:p.Asp332=
ENST00000673284.1:c.933C>T	ENSP00000499852.1:p.Asp311=
ENST00000345378.6:c.936C>T	ENSP00000223366.2:p.Asp312=
ENST00000395796.7:c.930C>T	ENSP00000379142.3:p.Asp310=
ENST00000403799.7:c.933C>T	ENSP00000384247.3:p.Asp311=
ENST00000437084.1:c.882C>T	ENSP00000402840.1:p.Asp294=
ENST00000473353.1:n.231C>T
ENST00000616242.4:c.930C>T	ENSP00000482149.1:p.Asp310=
NM_000162.3:c.933C>T	NP_000153.1:p.Asp311=
NM_033507.1:c.936C>T	NP_277042.1:p.Asp312=
NM_033508.1:c.930C>T	NP_277043.1:p.Asp310=
NM_000162.4:c.933C>T	NP_000153.1:p.Asp311=
NM_001354800.1:c.933C>T	NP_001341729.1:p.Asp311=
NM_001354801.1:c.8+70C>T	NP_001341730.1:n.8+70C>T
NM_033507.2:c.936C>T	NP_277042.1:p.Asp312=
NM_033508.2:c.930C>T	NP_277043.1:p.Asp310=
NM_000162.5:c.933C>T MANE Select	NP_000153.1:p.Asp311=
NM_033507.3:c.936C>T	NP_277042.1:p.Asp312=
NM_033508.3:c.930C>T	NP_277043.1:p.Asp310=