Canonical Allele Identifier: CA5910663

Gene: GTF2H1

Linked Data

• dbSNP Id: rs201824740
• ExAC: 11:18357338 G / C
• gnomAD v2: 11-18357338-G-C
• gnomAD v3: 11-18335791-G-C
• gnomAD v4: 11-18335791-G-C
• MyVariant Identifiers: chr11:g.18357338G>C (hg19) ; chr11:g.18335791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335791G>C , CM000673.2:g.18335791G>C	GRCh38
NC_000011.9:g.18357338G>C , CM000673.1:g.18357338G>C	GRCh37
NC_000011.8:g.18313914G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.192G>C MANE Select	ENSP00000265963.4:p.Gln64His
ENST00000265963.8:c.192G>C	ENSP00000265963.4:p.Gln64His
ENST00000418116.6:n.391G>C
ENST00000453096.6:c.192G>C	ENSP00000393638.2:p.Gln64His
ENST00000525831.5:c.192G>C	ENSP00000431481.1:p.Gln64His
ENST00000531757.5:n.462G>C
ENST00000534641.5:c.-1-2318G>C	ENSP00000435375.1:n.-1-2318G>C
ENST00000543932.5:n.605G>C
NM_001142307.1:c.192G>C	NP_001135779.1:p.Gln64His
NM_005316.3:c.192G>C	NP_005307.1:p.Gln64His
XM_006718208.2:c.192G>C	XP_006718271.1:p.Gln64His
XM_006718208.3:c.192G>C	XP_006718271.1:p.Gln64His
XM_024448457.1:c.192G>C	XP_024304225.1:p.Gln64His
XM_024448458.1:c.192G>C	XP_024304226.1:p.Gln64His
NM_005316.4:c.192G>C MANE Select	NP_005307.1:p.Gln64His
NM_001142307.2:c.192G>C	NP_001135779.1:p.Gln64His