Canonical Allele Identifier: CA367399712

Gene: GCK

Linked Data

• gnomAD v4: 7-44146472-T-A
• MyVariant Identifiers: chr7:g.44186071T>A (hg19) ; chr7:g.44146472T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146472T>A , CM000669.2:g.44146472T>A	GRCh38
NC_000007.13:g.44186071T>A , CM000669.1:g.44186071T>A	GRCh37
NC_000007.12:g.44152596T>A	NCBI36
NG_008847.1:g.47952A>T
NG_008847.2:g.56699A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1008A>T	ENSP00000379142.4:n.*1008A>T
ENST00000616242.5:c.*130A>T	ENSP00000482149.2:n.*130A>T
ENST00000683378.1:n.236A>T
ENST00000345378.7:c.1013A>T	ENSP00000223366.2:p.Gln338Leu
ENST00000403799.8:c.1010A>T MANE Select	ENSP00000384247.3:p.Gln337Leu
ENST00000671824.1:c.1073A>T	ENSP00000500264.1:p.Gln358Leu
ENST00000673284.1:c.1010A>T	ENSP00000499852.1:p.Gln337Leu
ENST00000345378.6:c.1013A>T	ENSP00000223366.2:p.Gln338Leu
ENST00000395796.7:c.1007A>T	ENSP00000379142.3:p.Gln336Leu
ENST00000403799.7:c.1010A>T	ENSP00000384247.3:p.Gln337Leu
ENST00000437084.1:c.959A>T	ENSP00000402840.1:p.Gln320Leu
ENST00000473353.1:n.308A>T
ENST00000616242.4:c.1007A>T	ENSP00000482149.1:p.Gln336Leu
NM_000162.3:c.1010A>T	NP_000153.1:p.Gln337Leu
NM_033507.1:c.1013A>T	NP_277042.1:p.Gln338Leu
NM_033508.1:c.1007A>T	NP_277043.1:p.Gln336Leu
NM_000162.4:c.1010A>T	NP_000153.1:p.Gln337Leu
NM_001354800.1:c.1010A>T	NP_001341729.1:p.Gln337Leu
NM_001354801.1:c.8+147A>T	NP_001341730.1:n.8+147A>T
NM_033507.2:c.1013A>T	NP_277042.1:p.Gln338Leu
NM_033508.2:c.1007A>T	NP_277043.1:p.Gln336Leu
NM_000162.5:c.1010A>T MANE Select	NP_000153.1:p.Gln337Leu
NM_033507.3:c.1013A>T	NP_277042.1:p.Gln338Leu
NM_033508.3:c.1007A>T	NP_277043.1:p.Gln336Leu