Canonical Allele Identifier: CA2612734545

Gene: GTF2H1

Linked Data

• dbSNP Id: rs2133961251
• gnomAD v4: 11-18336012-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18336012T>C , CM000673.2:g.18336012T>C	GRCh38
NC_000011.9:g.18357559T>C , CM000673.1:g.18357559T>C	GRCh37
NC_000011.8:g.18314135T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.347+66T>C MANE Select	ENSP00000265963.4:n.347+66T>C
ENST00000265963.8:c.347+66T>C	ENSP00000265963.4:n.347+66T>C
ENST00000418116.6:n.546+66T>C
ENST00000453096.6:c.347+66T>C	ENSP00000393638.2:n.347+66T>C
ENST00000534641.5:c.-1-2097T>C	ENSP00000435375.1:n.-1-2097T>C
ENST00000543932.5:n.760+66T>C
NM_001142307.1:c.347+66T>C	NP_001135779.1:n.347+66T>C
NM_005316.3:c.347+66T>C	NP_005307.1:n.347+66T>C
XM_006718208.2:c.347+66T>C	XP_006718271.1:n.347+66T>C
XM_006718208.3:c.347+66T>C	XP_006718271.1:n.347+66T>C
XM_024448457.1:c.347+66T>C	XP_024304225.1:n.347+66T>C
XM_024448458.1:c.347+66T>C	XP_024304226.1:n.347+66T>C
NM_005316.4:c.347+66T>C MANE Select	NP_005307.1:n.347+66T>C
NM_001142307.2:c.347+66T>C	NP_001135779.1:n.347+66T>C