Canonical Allele Identifier: CA367397216

Gene: GCK

Linked Data

• gnomAD v4: 7-44145257-C-G
• MyVariant Identifiers: chr7:g.44184856C>G (hg19) ; chr7:g.44145257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145257C>G , CM000669.2:g.44145257C>G	GRCh38
NC_000007.13:g.44184856C>G , CM000669.1:g.44184856C>G	GRCh37
NC_000007.12:g.44151381C>G	NCBI36
NG_008847.1:g.49167G>C
NG_008847.2:g.57914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1275G>C	ENSP00000379142.4:n.*1275G>C
ENST00000616242.5:c.*397G>C	ENSP00000482149.2:n.*397G>C
ENST00000683378.1:n.503G>C
ENST00000336642.9:c.311G>C	ENSP00000338009.5:p.Ser104Thr
ENST00000345378.7:c.1280G>C	ENSP00000223366.2:p.Ser427Thr
ENST00000403799.8:c.1277G>C MANE Select	ENSP00000384247.3:p.Ser426Thr
ENST00000671824.1:c.1340G>C	ENSP00000500264.1:p.Ser447Thr
ENST00000672743.1:n.289G>C
ENST00000673284.1:c.1277G>C	ENSP00000499852.1:p.Ser426Thr
ENST00000336642.8:c.329G>C	ENSP00000338009.4:p.Ser110Thr
ENST00000345378.6:c.1280G>C	ENSP00000223366.2:p.Ser427Thr
ENST00000395796.7:c.1274G>C	ENSP00000379142.3:p.Ser425Thr
ENST00000403799.7:c.1277G>C	ENSP00000384247.3:p.Ser426Thr
ENST00000437084.1:c.1226G>C	ENSP00000402840.1:p.Ser409Thr
ENST00000459642.1:n.657G>C
ENST00000616242.4:c.1274G>C	ENSP00000482149.1:p.Ser425Thr
NM_000162.3:c.1277G>C	NP_000153.1:p.Ser426Thr
NM_033507.1:c.1280G>C	NP_277042.1:p.Ser427Thr
NM_033508.1:c.1274G>C	NP_277043.1:p.Ser425Thr
NM_000162.4:c.1277G>C	NP_000153.1:p.Ser426Thr
NM_001354800.1:c.1277G>C	NP_001341729.1:p.Ser426Thr
NM_001354801.1:c.266G>C	NP_001341730.1:p.Ser89Thr
NM_001354802.1:c.137G>C	NP_001341731.1:p.Ser46Thr
NM_001354803.1:c.311G>C	NP_001341732.1:p.Ser104Thr
NM_033507.2:c.1280G>C	NP_277042.1:p.Ser427Thr
NM_033508.2:c.1274G>C	NP_277043.1:p.Ser425Thr
XM_024446707.1:c.137G>C	XP_024302475.1:p.Ser46Thr
NM_000162.5:c.1277G>C MANE Select	NP_000153.1:p.Ser426Thr
NM_033507.3:c.1280G>C	NP_277042.1:p.Ser427Thr
NM_033508.3:c.1274G>C	NP_277043.1:p.Ser425Thr
NM_001354803.2:c.311G>C	NP_001341732.1:p.Ser104Thr