Canonical Allele Identifier: CA454606348
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145175-C-G
MyVariant Identifiers: chr7:g.44184774C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145175C>G , CM000669.2:g.44145175C>G GRCh38
NC_000007.13:g.44184774C>G , CM000669.1:g.44184774C>G GRCh37
NC_000007.12:g.44151299C>G NCBI36
NG_008847.1:g.49249G>C
NG_008847.2:g.57996G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1357G>C ENSP00000379142.4:n.*1357G>C
ENST00000616242.5:c.*479G>C ENSP00000482149.2:n.*479G>C
ENST00000683378.1:n.585G>C
ENST00000336642.9:c.393G>C ENSP00000338009.5:p.Ser131=
ENST00000345378.7:c.1362G>C ENSP00000223366.2:p.Ser454=
ENST00000403799.8:c.1359G>C MANE Select ENSP00000384247.3:p.Ser453=
ENST00000671824.1:c.1422G>C ENSP00000500264.1:p.Ser474=
ENST00000672743.1:n.371G>C
ENST00000673284.1:c.1359G>C ENSP00000499852.1:p.Ser453=
ENST00000336642.8:c.411G>C ENSP00000338009.4:p.Ser137=
ENST00000345378.6:c.1362G>C ENSP00000223366.2:p.Ser454=
ENST00000395796.7:c.1356G>C ENSP00000379142.3:p.Ser452=
ENST00000403799.7:c.1359G>C ENSP00000384247.3:p.Ser453=
ENST00000437084.1:c.1308G>C ENSP00000402840.1:p.Ser436=
ENST00000459642.1:n.739G>C
ENST00000616242.4:c.1356G>C ENSP00000482149.1:p.Ser452=
NM_000162.3:c.1359G>C NP_000153.1:p.Ser453=
NM_033507.1:c.1362G>C NP_277042.1:p.Ser454=
NM_033508.1:c.1356G>C NP_277043.1:p.Ser452=
NM_000162.4:c.1359G>C NP_000153.1:p.Ser453=
NM_001354800.1:c.1359G>C NP_001341729.1:p.Ser453=
NM_001354801.1:c.348G>C NP_001341730.1:p.Ser116=
NM_001354802.1:c.219G>C NP_001341731.1:p.Ser73=
NM_001354803.1:c.393G>C NP_001341732.1:p.Ser131=
NM_033507.2:c.1362G>C NP_277042.1:p.Ser454=
NM_033508.2:c.1356G>C NP_277043.1:p.Ser452=
XM_024446707.1:c.219G>C XP_024302475.1:p.Ser73=
NM_000162.5:c.1359G>C MANE Select NP_000153.1:p.Ser453=
NM_033507.3:c.1362G>C NP_277042.1:p.Ser454=
NM_033508.3:c.1356G>C NP_277043.1:p.Ser452=
NM_001354803.2:c.393G>C NP_001341732.1:p.Ser131=
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