Canonical Allele Identifier: CA454607716

Gene: GCK

Linked Data

• ClinVar Variation Id: 2632759
• ClinVar RCV Id: RCV003408321 ; RCV003689081
• MyVariant Identifiers: chr7:g.44186067C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146468C>T , CM000669.2:g.44146468C>T	GRCh38
NC_000007.13:g.44186067C>T , CM000669.1:g.44186067C>T	GRCh37
NC_000007.12:g.44152592C>T	NCBI36
NG_008847.1:g.47956G>A
NG_008847.2:g.56703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1012G>A	ENSP00000379142.4:n.*1012G>A
ENST00000616242.5:c.*134G>A	ENSP00000482149.2:n.*134G>A
ENST00000683378.1:n.240G>A
ENST00000345378.7:c.1017G>A	ENSP00000223366.2:p.Val339=
ENST00000403799.8:c.1014G>A MANE Select	ENSP00000384247.3:p.Val338=
ENST00000671824.1:c.1077G>A	ENSP00000500264.1:p.Val359=
ENST00000673284.1:c.1014G>A	ENSP00000499852.1:p.Val338=
ENST00000345378.6:c.1017G>A	ENSP00000223366.2:p.Val339=
ENST00000395796.7:c.1011G>A	ENSP00000379142.3:p.Val337=
ENST00000403799.7:c.1014G>A	ENSP00000384247.3:p.Val338=
ENST00000437084.1:c.963G>A	ENSP00000402840.1:p.Val321=
ENST00000473353.1:n.312G>A
ENST00000616242.4:c.1011G>A	ENSP00000482149.1:p.Val337=
NM_000162.3:c.1014G>A	NP_000153.1:p.Val338=
NM_033507.1:c.1017G>A	NP_277042.1:p.Val339=
NM_033508.1:c.1011G>A	NP_277043.1:p.Val337=
NM_000162.4:c.1014G>A	NP_000153.1:p.Val338=
NM_001354800.1:c.1014G>A	NP_001341729.1:p.Val338=
NM_001354801.1:c.8+151G>A	NP_001341730.1:n.8+151G>A
NM_033507.2:c.1017G>A	NP_277042.1:p.Val339=
NM_033508.2:c.1011G>A	NP_277043.1:p.Val337=
NM_000162.5:c.1014G>A MANE Select	NP_000153.1:p.Val338=
NM_033507.3:c.1017G>A	NP_277042.1:p.Val339=
NM_033508.3:c.1011G>A	NP_277043.1:p.Val337=