Canonical Allele Identifier: CA367403425

Gene: GCK

Linked Data

• gnomAD v4: 7-44153371-C-G
• MyVariant Identifiers: chr7:g.44192970C>G (hg19) ; chr7:g.44153371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153371C>G , CM000669.2:g.44153371C>G	GRCh38
NC_000007.13:g.44192970C>G , CM000669.1:g.44192970C>G	GRCh37
NC_000007.12:g.44159495C>G	NCBI36
NG_008847.1:g.41053G>C
NG_008847.2:g.49800G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*136G>C	ENSP00000379142.4:n.*136G>C
ENST00000616242.5:c.138G>C	ENSP00000482149.2:p.Arg46Ser
ENST00000682635.1:n.624G>C
ENST00000345378.7:c.141G>C	ENSP00000223366.2:p.Arg47Ser
ENST00000403799.8:c.138G>C MANE Select	ENSP00000384247.3:p.Arg46Ser
ENST00000671824.1:c.138G>C	ENSP00000500264.1:p.Arg46Ser
ENST00000673284.1:c.138G>C	ENSP00000499852.1:p.Arg46Ser
ENST00000345378.6:c.141G>C	ENSP00000223366.2:p.Arg47Ser
ENST00000395796.7:c.135G>C	ENSP00000379142.3:p.Arg45Ser
ENST00000403799.7:c.138G>C	ENSP00000384247.3:p.Arg46Ser
ENST00000437084.1:c.138G>C	ENSP00000402840.1:p.Arg46Ser
ENST00000616242.4:c.135G>C	ENSP00000482149.1:p.Arg45Ser
NM_000162.3:c.138G>C	NP_000153.1:p.Arg46Ser
NM_033507.1:c.141G>C	NP_277042.1:p.Arg47Ser
NM_033508.1:c.135G>C	NP_277043.1:p.Arg45Ser
NM_000162.4:c.138G>C	NP_000153.1:p.Arg46Ser
NM_001354800.1:c.138G>C	NP_001341729.1:p.Arg46Ser
NM_033507.2:c.141G>C	NP_277042.1:p.Arg47Ser
NM_033508.2:c.135G>C	NP_277043.1:p.Arg45Ser
NM_000162.5:c.138G>C MANE Select	NP_000153.1:p.Arg46Ser
NM_033507.3:c.141G>C	NP_277042.1:p.Arg47Ser
NM_033508.3:c.135G>C	NP_277043.1:p.Arg45Ser