Canonical Allele Identifier: CA838780447

Gene: GCK

Linked Data

• dbSNP Id: rs1407227778
• gnomAD v4: 7-44149718-C-A
• MyVariant Identifiers: chr7:g.44189317C>A (hg19) ; chr7:g.44149718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149718C>A , CM000669.2:g.44149718C>A	GRCh38
NC_000007.13:g.44189317C>A , CM000669.1:g.44189317C>A	GRCh37
NC_000007.12:g.44155842C>A	NCBI36
NG_008847.1:g.44706G>T
NG_008847.2:g.53453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*677+42G>T	ENSP00000379142.4:n.*677+42G>T
ENST00000616242.5:c.679+42G>T	ENSP00000482149.2:n.679+42G>T
ENST00000682635.1:n.1207G>T
ENST00000345378.7:c.682+42G>T	ENSP00000223366.2:n.682+42G>T
ENST00000403799.8:c.679+42G>T MANE Select	ENSP00000384247.3:n.679+42G>T
ENST00000671824.1:c.679+42G>T	ENSP00000500264.1:n.679+42G>T
ENST00000673284.1:c.679+42G>T	ENSP00000499852.1:n.679+42G>T
ENST00000345378.6:c.682+42G>T	ENSP00000223366.2:n.682+42G>T
ENST00000395796.7:c.676+42G>T	ENSP00000379142.3:n.676+42G>T
ENST00000403799.7:c.679+42G>T	ENSP00000384247.3:n.679+42G>T
ENST00000437084.1:c.628+42G>T	ENSP00000402840.1:n.628+42G>T
ENST00000616242.4:c.676+42G>T	ENSP00000482149.1:n.676+42G>T
NM_000162.3:c.679+42G>T	NP_000153.1:n.679+42G>T
NM_033507.1:c.682+42G>T	NP_277042.1:n.682+42G>T
NM_033508.1:c.676+42G>T	NP_277043.1:n.676+42G>T
XR_927223.1:n.233C>A
NM_000162.4:c.679+42G>T	NP_000153.1:n.679+42G>T
NM_001354800.1:c.679+42G>T	NP_001341729.1:n.679+42G>T
NM_033507.2:c.682+42G>T	NP_277042.1:n.682+42G>T
NM_033508.2:c.676+42G>T	NP_277043.1:n.676+42G>T
XR_927223.2:n.233C>A
NM_000162.5:c.679+42G>T MANE Select	NP_000153.1:n.679+42G>T
NM_033507.3:c.682+42G>T	NP_277042.1:n.682+42G>T
NM_033508.3:c.676+42G>T	NP_277043.1:n.676+42G>T