Canonical Allele Identifier: CA142660

Gene: USH1G

Linked Data

• ClinVar Variation Id: 48134
• ClinVar RCV Id: RCV000041422 ; RCV001124409 ; RCV000958231 ; RCV004537146
• dbSNP Id: rs201644674
• ExAC: 17:72916365 C / T
• gnomAD v2: 17-72916365-C-T
• gnomAD v3: 17-74920270-C-T
• gnomAD v4: 17-74920270-C-T
• MyVariant Identifiers: chr17:g.72916365C>T (hg19) ; chr17:g.74920270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920270C>T , CM000679.2:g.74920270C>T	GRCh38
NC_000017.10:g.72916365C>T , CM000679.1:g.72916365C>T	GRCh37
NC_000017.9:g.70427960C>T	NCBI36
NG_007882.1:g.7987G>A
NG_033062.1:g.996C>T
NG_007882.2:g.7994G>A
NG_033062.2:g.996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.566G>A MANE Select	ENSP00000480279.1:p.Arg189Gln
ENST00000579243.1:c.*165G>A	ENSP00000462568.1:n.*165G>A
ENST00000614341.4:c.566G>A	ENSP00000480279.1:p.Arg189Gln
NM_001282489.2:c.257G>A	NP_001269418.1:p.Arg86Gln
NM_173477.4:c.566G>A	NP_775748.2:p.Arg189Gln
XM_011524296.1:c.257G>A	XP_011522598.1:p.Arg86Gln
XM_011524296.2:c.257G>A	XP_011522598.1:p.Arg86Gln
NM_173477.5:c.566G>A MANE Select	NP_775748.2:p.Arg189Gln
NM_001282489.3:c.257G>A	NP_001269418.1:p.Arg86Gln