Canonical Allele Identifier: CA573797762

Gene: GCK

Linked Data

• dbSNP Id: rs1241029121
• gnomAD v2: 7-44189520-G-A
• gnomAD v4: 7-44149921-G-A
• MyVariant Identifiers: chr7:g.44189520G>A (hg19) ; chr7:g.44149921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149921G>A , CM000669.2:g.44149921G>A	GRCh38
NC_000007.13:g.44189520G>A , CM000669.1:g.44189520G>A	GRCh37
NC_000007.12:g.44156045G>A	NCBI36
NG_008847.1:g.44503C>T
NG_008847.2:g.53250C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*577+48C>T	ENSP00000379142.4:n.*577+48C>T
ENST00000616242.5:c.579+48C>T	ENSP00000482149.2:n.579+48C>T
ENST00000682635.1:n.1065+48C>T
ENST00000345378.7:c.582+48C>T	ENSP00000223366.2:n.582+48C>T
ENST00000403799.8:c.579+48C>T MANE Select	ENSP00000384247.3:n.579+48C>T
ENST00000671824.1:c.579+48C>T	ENSP00000500264.1:n.579+48C>T
ENST00000673284.1:c.579+48C>T	ENSP00000499852.1:n.579+48C>T
ENST00000345378.6:c.582+48C>T	ENSP00000223366.2:n.582+48C>T
ENST00000395796.7:c.576+48C>T	ENSP00000379142.3:n.576+48C>T
ENST00000403799.7:c.579+48C>T	ENSP00000384247.3:n.579+48C>T
ENST00000437084.1:c.528+48C>T	ENSP00000402840.1:n.528+48C>T
ENST00000616242.4:c.576+48C>T	ENSP00000482149.1:n.576+48C>T
NM_000162.3:c.579+48C>T	NP_000153.1:n.579+48C>T
NM_033507.1:c.582+48C>T	NP_277042.1:n.582+48C>T
NM_033508.1:c.576+48C>T	NP_277043.1:n.576+48C>T
NM_000162.4:c.579+48C>T	NP_000153.1:n.579+48C>T
NM_001354800.1:c.579+48C>T	NP_001341729.1:n.579+48C>T
NM_033507.2:c.582+48C>T	NP_277042.1:n.582+48C>T
NM_033508.2:c.576+48C>T	NP_277043.1:n.576+48C>T
NM_000162.5:c.579+48C>T MANE Select	NP_000153.1:n.579+48C>T
NM_033507.3:c.582+48C>T	NP_277042.1:n.582+48C>T
NM_033508.3:c.576+48C>T	NP_277043.1:n.576+48C>T