Canonical Allele Identifier: CA367398952

Gene: GCK

Linked Data

• gnomAD v4: 7-44145641-G-A
• MyVariant Identifiers: chr7:g.44185240G>A (hg19) ; chr7:g.44145641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145641G>A , CM000669.2:g.44145641G>A	GRCh38
NC_000007.13:g.44185240G>A , CM000669.1:g.44185240G>A	GRCh37
NC_000007.12:g.44151765G>A	NCBI36
NG_008847.1:g.48783C>T
NG_008847.2:g.57530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1107C>T	ENSP00000379142.4:n.*1107C>T
ENST00000616242.5:c.*229C>T	ENSP00000482149.2:n.*229C>T
ENST00000683378.1:n.335C>T
ENST00000336642.9:c.143C>T	ENSP00000338009.5:p.Ala48Val
ENST00000345378.7:c.1112C>T	ENSP00000223366.2:p.Ala371Val
ENST00000403799.8:c.1109C>T MANE Select	ENSP00000384247.3:p.Ala370Val
ENST00000671824.1:c.1172C>T	ENSP00000500264.1:p.Ala391Val
ENST00000672743.1:n.121C>T
ENST00000673284.1:c.1109C>T	ENSP00000499852.1:p.Ala370Val
ENST00000336642.8:c.161C>T	ENSP00000338009.4:p.Ala54Val
ENST00000345378.6:c.1112C>T	ENSP00000223366.2:p.Ala371Val
ENST00000395796.7:c.1106C>T	ENSP00000379142.3:p.Ala369Val
ENST00000403799.7:c.1109C>T	ENSP00000384247.3:p.Ala370Val
ENST00000437084.1:c.1058C>T	ENSP00000402840.1:p.Ala353Val
ENST00000459642.1:n.489C>T
ENST00000616242.4:c.1106C>T	ENSP00000482149.1:p.Ala369Val
NM_000162.3:c.1109C>T	NP_000153.1:p.Ala370Val
NM_033507.1:c.1112C>T	NP_277042.1:p.Ala371Val
NM_033508.1:c.1106C>T	NP_277043.1:p.Ala369Val
NM_000162.4:c.1109C>T	NP_000153.1:p.Ala370Val
NM_001354800.1:c.1109C>T	NP_001341729.1:p.Ala370Val
NM_001354801.1:c.98C>T	NP_001341730.1:p.Ala33Val
NM_001354802.1:c.-32C>T	NP_001341731.1:n.-32C>T
NM_001354803.1:c.143C>T	NP_001341732.1:p.Ala48Val
NM_033507.2:c.1112C>T	NP_277042.1:p.Ala371Val
NM_033508.2:c.1106C>T	NP_277043.1:p.Ala369Val
XM_024446707.1:c.-32C>T	XP_024302475.1:n.-32C>T
NM_000162.5:c.1109C>T MANE Select	NP_000153.1:p.Ala370Val
NM_033507.3:c.1112C>T	NP_277042.1:p.Ala371Val
NM_033508.3:c.1106C>T	NP_277043.1:p.Ala369Val
NM_001354803.2:c.143C>T	NP_001341732.1:p.Ala48Val