Canonical Allele Identifier: CA367401111

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44189358C>G (hg19) ; chr7:g.44149759C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149759C>G , CM000669.2:g.44149759C>G	GRCh38
NC_000007.13:g.44189358C>G , CM000669.1:g.44189358C>G	GRCh37
NC_000007.12:g.44155883C>G	NCBI36
NG_008847.1:g.44665G>C
NG_008847.2:g.53412G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*677+1G>C	ENSP00000379142.4:n.*677+1G>C
ENST00000616242.5:c.679+1G>C	ENSP00000482149.2:n.679+1G>C
ENST00000682635.1:n.1166G>C
ENST00000345378.7:c.682+1G>C	ENSP00000223366.2:n.682+1G>C
ENST00000403799.8:c.679+1G>C MANE Select	ENSP00000384247.3:n.679+1G>C
ENST00000671824.1:c.679+1G>C	ENSP00000500264.1:n.679+1G>C
ENST00000673284.1:c.679+1G>C	ENSP00000499852.1:n.679+1G>C
ENST00000345378.6:c.682+1G>C	ENSP00000223366.2:n.682+1G>C
ENST00000395796.7:c.676+1G>C	ENSP00000379142.3:n.676+1G>C
ENST00000403799.7:c.679+1G>C	ENSP00000384247.3:n.679+1G>C
ENST00000437084.1:c.628+1G>C	ENSP00000402840.1:n.628+1G>C
ENST00000616242.4:c.676+1G>C	ENSP00000482149.1:n.676+1G>C
NM_000162.3:c.679+1G>C	NP_000153.1:n.679+1G>C
NM_033507.1:c.682+1G>C	NP_277042.1:n.682+1G>C
NM_033508.1:c.676+1G>C	NP_277043.1:n.676+1G>C
XR_927223.1:n.274C>G
NM_000162.4:c.679+1G>C	NP_000153.1:n.679+1G>C
NM_001354800.1:c.679+1G>C	NP_001341729.1:n.679+1G>C
NM_033507.2:c.682+1G>C	NP_277042.1:n.682+1G>C
NM_033508.2:c.676+1G>C	NP_277043.1:n.676+1G>C
XR_927223.2:n.274C>G
NM_000162.5:c.679+1G>C MANE Select	NP_000153.1:n.679+1G>C
NM_033507.3:c.682+1G>C	NP_277042.1:n.682+1G>C
NM_033508.3:c.676+1G>C	NP_277043.1:n.676+1G>C