Canonical Allele Identifier: CA454863305

Gene: GCK

Linked Data

• dbSNP Id: rs1284545419
• gnomAD v2: 7-44185242-G-C
• gnomAD v4: 7-44145643-G-C
• MyVariant Identifiers: chr7:g.44185242G>C (hg19) ; chr7:g.44145643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145643G>C , CM000669.2:g.44145643G>C	GRCh38
NC_000007.13:g.44185242G>C , CM000669.1:g.44185242G>C	GRCh37
NC_000007.12:g.44151767G>C	NCBI36
NG_008847.1:g.48781C>G
NG_008847.2:g.57528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1105C>G	ENSP00000379142.4:n.*1105C>G
ENST00000616242.5:c.*227C>G	ENSP00000482149.2:n.*227C>G
ENST00000683378.1:n.333C>G
ENST00000336642.9:c.141C>G	ENSP00000338009.5:p.Arg47=
ENST00000345378.7:c.1110C>G	ENSP00000223366.2:p.Arg370=
ENST00000403799.8:c.1107C>G MANE Select	ENSP00000384247.3:p.Arg369=
ENST00000671824.1:c.1170C>G	ENSP00000500264.1:p.Arg390=
ENST00000672743.1:n.119C>G
ENST00000673284.1:c.1107C>G	ENSP00000499852.1:p.Arg369=
ENST00000336642.8:c.159C>G	ENSP00000338009.4:p.Arg53=
ENST00000345378.6:c.1110C>G	ENSP00000223366.2:p.Arg370=
ENST00000395796.7:c.1104C>G	ENSP00000379142.3:p.Arg368=
ENST00000403799.7:c.1107C>G	ENSP00000384247.3:p.Arg369=
ENST00000437084.1:c.1056C>G	ENSP00000402840.1:p.Arg352=
ENST00000459642.1:n.487C>G
ENST00000616242.4:c.1104C>G	ENSP00000482149.1:p.Arg368=
NM_000162.3:c.1107C>G	NP_000153.1:p.Arg369=
NM_033507.1:c.1110C>G	NP_277042.1:p.Arg370=
NM_033508.1:c.1104C>G	NP_277043.1:p.Arg368=
NM_000162.4:c.1107C>G	NP_000153.1:p.Arg369=
NM_001354800.1:c.1107C>G	NP_001341729.1:p.Arg369=
NM_001354801.1:c.96C>G	NP_001341730.1:p.Arg32=
NM_001354802.1:c.-34C>G	NP_001341731.1:n.-34C>G
NM_001354803.1:c.141C>G	NP_001341732.1:p.Arg47=
NM_033507.2:c.1110C>G	NP_277042.1:p.Arg370=
NM_033508.2:c.1104C>G	NP_277043.1:p.Arg368=
XM_024446707.1:c.-34C>G	XP_024302475.1:n.-34C>G
NM_000162.5:c.1107C>G MANE Select	NP_000153.1:p.Arg369=
NM_033507.3:c.1110C>G	NP_277042.1:p.Arg370=
NM_033508.3:c.1104C>G	NP_277043.1:p.Arg368=
NM_001354803.2:c.141C>G	NP_001341732.1:p.Arg47=