Canonical Allele Identifier: CA379517658

Gene: GTF2H1

Linked Data

• ClinVar Variation Id: 2219606
• ClinVar RCV Id: RCV004083589
• dbSNP Id: rs1865014013
• gnomAD v4: 11-18335844-A-G
• MyVariant Identifiers: chr11:g.18357391A>G (hg19) ; chr11:g.18335844A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335844A>G , CM000673.2:g.18335844A>G	GRCh38
NC_000011.9:g.18357391A>G , CM000673.1:g.18357391A>G	GRCh37
NC_000011.8:g.18313967A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.245A>G MANE Select	ENSP00000265963.4:p.Glu82Gly
ENST00000265963.8:c.245A>G	ENSP00000265963.4:p.Glu82Gly
ENST00000418116.6:n.444A>G
ENST00000453096.6:c.245A>G	ENSP00000393638.2:p.Glu82Gly
ENST00000525831.5:c.245A>G	ENSP00000431481.1:p.Glu82Gly
ENST00000531757.5:n.515A>G
ENST00000534641.5:c.-1-2265A>G	ENSP00000435375.1:n.-1-2265A>G
ENST00000543932.5:n.658A>G
NM_001142307.1:c.245A>G	NP_001135779.1:p.Glu82Gly
NM_005316.3:c.245A>G	NP_005307.1:p.Glu82Gly
XM_006718208.2:c.245A>G	XP_006718271.1:p.Glu82Gly
XM_006718208.3:c.245A>G	XP_006718271.1:p.Glu82Gly
XM_024448457.1:c.245A>G	XP_024304225.1:p.Glu82Gly
XM_024448458.1:c.245A>G	XP_024304226.1:p.Glu82Gly
NM_005316.4:c.245A>G MANE Select	NP_005307.1:p.Glu82Gly
NM_001142307.2:c.245A>G	NP_001135779.1:p.Glu82Gly