Canonical Allele Identifier: CA293984385
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 834490
ClinVar RCV Id: RCV001035186
dbSNP Id: rs1003052325
gnomAD v2: 17-72916266-C-T
gnomAD v4: 17-74920171-C-T
COSMIC: COSM4069445
MyVariant Identifiers: chr17:g.72916266C>T (hg19) chr17:g.74920171C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920171C>T , CM000679.2:g.74920171C>T GRCh38
NC_000017.10:g.72916266C>T , CM000679.1:g.72916266C>T GRCh37
NC_000017.9:g.70427861C>T NCBI36
NG_007882.1:g.8086G>A
NG_033062.1:g.897C>T
NG_007882.2:g.8093G>A
NG_033062.2:g.897C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.665G>A MANE Select ENSP00000480279.1:p.Arg222Gln
ENST00000579243.1:c.*264G>A ENSP00000462568.1:n.*264G>A
ENST00000614341.4:c.665G>A ENSP00000480279.1:p.Arg222Gln
NM_001282489.2:c.356G>A NP_001269418.1:p.Arg119Gln
NM_173477.4:c.665G>A NP_775748.2:p.Arg222Gln
XM_011524296.1:c.356G>A XP_011522598.1:p.Arg119Gln
XM_011524296.2:c.356G>A XP_011522598.1:p.Arg119Gln
NM_173477.5:c.665G>A MANE Select NP_775748.2:p.Arg222Gln
NM_001282489.3:c.356G>A NP_001269418.1:p.Arg119Gln
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