Canonical Allele Identifier: CA367398415

Gene: GCK

Linked Data

• gnomAD v4: 7-44145542-C-G
• MyVariant Identifiers: chr7:g.44185141C>G (hg19) ; chr7:g.44145542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145542C>G , CM000669.2:g.44145542C>G	GRCh38
NC_000007.13:g.44185141C>G , CM000669.1:g.44185141C>G	GRCh37
NC_000007.12:g.44151666C>G	NCBI36
NG_008847.1:g.48882G>C
NG_008847.2:g.57629G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1206G>C	ENSP00000379142.4:n.*1206G>C
ENST00000616242.5:c.*328G>C	ENSP00000482149.2:n.*328G>C
ENST00000683378.1:n.434G>C
ENST00000336642.9:c.242G>C	ENSP00000338009.5:p.Arg81Pro
ENST00000345378.7:c.1211G>C	ENSP00000223366.2:p.Arg404Pro
ENST00000403799.8:c.1208G>C MANE Select	ENSP00000384247.3:p.Arg403Pro
ENST00000671824.1:c.1271G>C	ENSP00000500264.1:p.Arg424Pro
ENST00000672743.1:n.220G>C
ENST00000673284.1:c.1208G>C	ENSP00000499852.1:p.Arg403Pro
ENST00000336642.8:c.260G>C	ENSP00000338009.4:p.Arg87Pro
ENST00000345378.6:c.1211G>C	ENSP00000223366.2:p.Arg404Pro
ENST00000395796.7:c.1205G>C	ENSP00000379142.3:p.Arg402Pro
ENST00000403799.7:c.1208G>C	ENSP00000384247.3:p.Arg403Pro
ENST00000437084.1:c.1157G>C	ENSP00000402840.1:p.Arg386Pro
ENST00000459642.1:n.588G>C
ENST00000616242.4:c.1205G>C	ENSP00000482149.1:p.Arg402Pro
NM_000162.3:c.1208G>C	NP_000153.1:p.Arg403Pro
NM_033507.1:c.1211G>C	NP_277042.1:p.Arg404Pro
NM_033508.1:c.1205G>C	NP_277043.1:p.Arg402Pro
NM_000162.4:c.1208G>C	NP_000153.1:p.Arg403Pro
NM_001354800.1:c.1208G>C	NP_001341729.1:p.Arg403Pro
NM_001354801.1:c.197G>C	NP_001341730.1:p.Arg66Pro
NM_001354802.1:c.68G>C	NP_001341731.1:p.Arg23Pro
NM_001354803.1:c.242G>C	NP_001341732.1:p.Arg81Pro
NM_033507.2:c.1211G>C	NP_277042.1:p.Arg404Pro
NM_033508.2:c.1205G>C	NP_277043.1:p.Arg402Pro
XM_024446707.1:c.68G>C	XP_024302475.1:p.Arg23Pro
NM_000162.5:c.1208G>C MANE Select	NP_000153.1:p.Arg403Pro
NM_033507.3:c.1211G>C	NP_277042.1:p.Arg404Pro
NM_033508.3:c.1205G>C	NP_277043.1:p.Arg402Pro
NM_001354803.2:c.242G>C	NP_001341732.1:p.Arg81Pro