Canonical Allele Identifier: CA454607987

Gene: GCK

Linked Data

• dbSNP Id: rs2096273858
• MyVariant Identifiers: chr7:g.44186169A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146570A>G , CM000669.2:g.44146570A>G	GRCh38
NC_000007.13:g.44186169A>G , CM000669.1:g.44186169A>G	GRCh37
NC_000007.12:g.44152694A>G	NCBI36
NG_008847.1:g.47854T>C
NG_008847.2:g.56601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*910T>C	ENSP00000379142.4:n.*910T>C
ENST00000616242.5:c.*32T>C	ENSP00000482149.2:n.*32T>C
ENST00000683378.1:n.138T>C
ENST00000345378.7:c.915T>C	ENSP00000223366.2:p.Leu305=
ENST00000403799.8:c.912T>C MANE Select	ENSP00000384247.3:p.Leu304=
ENST00000671824.1:c.975T>C	ENSP00000500264.1:p.Leu325=
ENST00000673284.1:c.912T>C	ENSP00000499852.1:p.Leu304=
ENST00000345378.6:c.915T>C	ENSP00000223366.2:p.Leu305=
ENST00000395796.7:c.909T>C	ENSP00000379142.3:p.Leu303=
ENST00000403799.7:c.912T>C	ENSP00000384247.3:p.Leu304=
ENST00000437084.1:c.861T>C	ENSP00000402840.1:p.Leu287=
ENST00000473353.1:n.210T>C
ENST00000616242.4:c.909T>C	ENSP00000482149.1:p.Leu303=
NM_000162.3:c.912T>C	NP_000153.1:p.Leu304=
NM_033507.1:c.915T>C	NP_277042.1:p.Leu305=
NM_033508.1:c.909T>C	NP_277043.1:p.Leu303=
NM_000162.4:c.912T>C	NP_000153.1:p.Leu304=
NM_001354800.1:c.912T>C	NP_001341729.1:p.Leu304=
NM_001354801.1:c.8+49T>C	NP_001341730.1:n.8+49T>C
NM_033507.2:c.915T>C	NP_277042.1:p.Leu305=
NM_033508.2:c.909T>C	NP_277043.1:p.Leu303=
NM_000162.5:c.912T>C MANE Select	NP_000153.1:p.Leu304=
NM_033507.3:c.915T>C	NP_277042.1:p.Leu305=
NM_033508.3:c.909T>C	NP_277043.1:p.Leu303=