Canonical Allele Identifier: CA8753919

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1135183
• ClinVar RCV Id: RCV001470367
• dbSNP Id: rs369036189
• ExAC: 17:72915757 G / A
• gnomAD v2: 17-72915757-G-A
• gnomAD v3: 17-74919662-G-A
• gnomAD v4: 17-74919662-G-A
• MyVariant Identifiers: chr17:g.72915757G>A (hg19) ; chr17:g.74919662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919662G>A , CM000679.2:g.74919662G>A	GRCh38
NC_000017.10:g.72915757G>A , CM000679.1:g.72915757G>A	GRCh37
NC_000017.9:g.70427352G>A	NCBI36
NG_007882.1:g.8595C>T
NG_033062.1:g.388G>A
NG_007882.2:g.8602C>T
NG_033062.2:g.388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1174C>T MANE Select	ENSP00000480279.1:p.Leu392=
ENST00000579243.1:c.*773C>T	ENSP00000462568.1:n.*773C>T
ENST00000614341.4:c.1174C>T	ENSP00000480279.1:p.Leu392=
NM_001282489.2:c.865C>T	NP_001269418.1:p.Leu289=
NM_173477.4:c.1174C>T	NP_775748.2:p.Leu392=
XM_011524296.1:c.865C>T	XP_011522598.1:p.Leu289=
XM_011524296.2:c.865C>T	XP_011522598.1:p.Leu289=
NM_173477.5:c.1174C>T MANE Select	NP_775748.2:p.Leu392=
NM_001282489.3:c.865C>T	NP_001269418.1:p.Leu289=