Canonical Allele Identifier: CA367398453

Gene: GCK

Linked Data

• dbSNP Id: rs761204125
• gnomAD v2: 7-44185148-C-G
• MyVariant Identifiers: chr7:g.44185148C>G (hg19) ; chr7:g.44145549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145549C>G , CM000669.2:g.44145549C>G	GRCh38
NC_000007.13:g.44185148C>G , CM000669.1:g.44185148C>G	GRCh37
NC_000007.12:g.44151673C>G	NCBI36
NG_008847.1:g.48875G>C
NG_008847.2:g.57622G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1199G>C	ENSP00000379142.4:n.*1199G>C
ENST00000616242.5:c.*321G>C	ENSP00000482149.2:n.*321G>C
ENST00000683378.1:n.427G>C
ENST00000336642.9:c.235G>C	ENSP00000338009.5:p.Val79Leu
ENST00000345378.7:c.1204G>C	ENSP00000223366.2:p.Val402Leu
ENST00000403799.8:c.1201G>C MANE Select	ENSP00000384247.3:p.Val401Leu
ENST00000671824.1:c.1264G>C	ENSP00000500264.1:p.Val422Leu
ENST00000672743.1:n.213G>C
ENST00000673284.1:c.1201G>C	ENSP00000499852.1:p.Val401Leu
ENST00000336642.8:c.253G>C	ENSP00000338009.4:p.Val85Leu
ENST00000345378.6:c.1204G>C	ENSP00000223366.2:p.Val402Leu
ENST00000395796.7:c.1198G>C	ENSP00000379142.3:p.Val400Leu
ENST00000403799.7:c.1201G>C	ENSP00000384247.3:p.Val401Leu
ENST00000437084.1:c.1150G>C	ENSP00000402840.1:p.Val384Leu
ENST00000459642.1:n.581G>C
ENST00000616242.4:c.1198G>C	ENSP00000482149.1:p.Val400Leu
NM_000162.3:c.1201G>C	NP_000153.1:p.Val401Leu
NM_033507.1:c.1204G>C	NP_277042.1:p.Val402Leu
NM_033508.1:c.1198G>C	NP_277043.1:p.Val400Leu
NM_000162.4:c.1201G>C	NP_000153.1:p.Val401Leu
NM_001354800.1:c.1201G>C	NP_001341729.1:p.Val401Leu
NM_001354801.1:c.190G>C	NP_001341730.1:p.Val64Leu
NM_001354802.1:c.61G>C	NP_001341731.1:p.Val21Leu
NM_001354803.1:c.235G>C	NP_001341732.1:p.Val79Leu
NM_033507.2:c.1204G>C	NP_277042.1:p.Val402Leu
NM_033508.2:c.1198G>C	NP_277043.1:p.Val400Leu
XM_024446707.1:c.61G>C	XP_024302475.1:p.Val21Leu
NM_000162.5:c.1201G>C MANE Select	NP_000153.1:p.Val401Leu
NM_033507.3:c.1204G>C	NP_277042.1:p.Val402Leu
NM_033508.3:c.1198G>C	NP_277043.1:p.Val400Leu
NM_001354803.2:c.235G>C	NP_001341732.1:p.Val79Leu