Canonical Allele Identifier: CA142664

Gene: USH1G

Linked Data

• ClinVar Variation Id: 48136
• ClinVar RCV Id: RCV000041424 ; RCV000841255
• dbSNP Id: rs149002004
• ExAC: 17:72916226 C / T
• gnomAD v2: 17-72916226-C-T
• gnomAD v3: 17-74920131-C-T
• gnomAD v4: 17-74920131-C-T
• MyVariant Identifiers: chr17:g.72916226C>T (hg19) ; chr17:g.74920131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920131C>T , CM000679.2:g.74920131C>T	GRCh38
NC_000017.10:g.72916226C>T , CM000679.1:g.72916226C>T	GRCh37
NC_000017.9:g.70427821C>T	NCBI36
NG_007882.1:g.8126G>A
NG_033062.1:g.857C>T
NG_007882.2:g.8133G>A
NG_033062.2:g.857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.705G>A MANE Select	ENSP00000480279.1:p.Glu235=
ENST00000579243.1:c.*304G>A	ENSP00000462568.1:n.*304G>A
ENST00000614341.4:c.705G>A	ENSP00000480279.1:p.Glu235=
NM_001282489.2:c.396G>A	NP_001269418.1:p.Glu132=
NM_173477.4:c.705G>A	NP_775748.2:p.Glu235=
XM_011524296.1:c.396G>A	XP_011522598.1:p.Glu132=
XM_011524296.2:c.396G>A	XP_011522598.1:p.Glu132=
NM_173477.5:c.705G>A MANE Select	NP_775748.2:p.Glu235=
NM_001282489.3:c.396G>A	NP_001269418.1:p.Glu132=