Canonical Allele Identifier: CA367398363

Gene: GCK

Linked Data

• ClinVar Variation Id: 2734990
• ClinVar RCV Id: RCV003555324
• MyVariant Identifiers: chr7:g.44185132A>G (hg19) ; chr7:g.44145533A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145533A>G , CM000669.2:g.44145533A>G	GRCh38
NC_000007.13:g.44185132A>G , CM000669.1:g.44185132A>G	GRCh37
NC_000007.12:g.44151657A>G	NCBI36
NG_008847.1:g.48891T>C
NG_008847.2:g.57638T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1215T>C	ENSP00000379142.4:n.*1215T>C
ENST00000616242.5:c.*337T>C	ENSP00000482149.2:n.*337T>C
ENST00000683378.1:n.443T>C
ENST00000336642.9:c.251T>C	ENSP00000338009.5:p.Val84Ala
ENST00000345378.7:c.1220T>C	ENSP00000223366.2:p.Val407Ala
ENST00000403799.8:c.1217T>C MANE Select	ENSP00000384247.3:p.Val406Ala
ENST00000671824.1:c.1280T>C	ENSP00000500264.1:p.Val427Ala
ENST00000672743.1:n.229T>C
ENST00000673284.1:c.1217T>C	ENSP00000499852.1:p.Val406Ala
ENST00000336642.8:c.269T>C	ENSP00000338009.4:p.Val90Ala
ENST00000345378.6:c.1220T>C	ENSP00000223366.2:p.Val407Ala
ENST00000395796.7:c.1214T>C	ENSP00000379142.3:p.Val405Ala
ENST00000403799.7:c.1217T>C	ENSP00000384247.3:p.Val406Ala
ENST00000437084.1:c.1166T>C	ENSP00000402840.1:p.Val389Ala
ENST00000459642.1:n.597T>C
ENST00000616242.4:c.1214T>C	ENSP00000482149.1:p.Val405Ala
NM_000162.3:c.1217T>C	NP_000153.1:p.Val406Ala
NM_033507.1:c.1220T>C	NP_277042.1:p.Val407Ala
NM_033508.1:c.1214T>C	NP_277043.1:p.Val405Ala
NM_000162.4:c.1217T>C	NP_000153.1:p.Val406Ala
NM_001354800.1:c.1217T>C	NP_001341729.1:p.Val406Ala
NM_001354801.1:c.206T>C	NP_001341730.1:p.Val69Ala
NM_001354802.1:c.77T>C	NP_001341731.1:p.Val26Ala
NM_001354803.1:c.251T>C	NP_001341732.1:p.Val84Ala
NM_033507.2:c.1220T>C	NP_277042.1:p.Val407Ala
NM_033508.2:c.1214T>C	NP_277043.1:p.Val405Ala
XM_024446707.1:c.77T>C	XP_024302475.1:p.Val26Ala
NM_000162.5:c.1217T>C MANE Select	NP_000153.1:p.Val406Ala
NM_033507.3:c.1220T>C	NP_277042.1:p.Val407Ala
NM_033508.3:c.1214T>C	NP_277043.1:p.Val405Ala
NM_001354803.2:c.251T>C	NP_001341732.1:p.Val84Ala