Canonical Allele Identifier: CA8753998
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 229609
ClinVar RCV Id: RCV000220164
dbSNP Id: rs753080270
ExAC: 17:72916125 C / T
gnomAD v4: 17-74920030-C-T
COSMIC: COSM5013951
MyVariant Identifiers: chr17:g.72916125C>T (hg19) chr17:g.74920030C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920030C>T , CM000679.2:g.74920030C>T GRCh38
NC_000017.10:g.72916125C>T , CM000679.1:g.72916125C>T GRCh37
NC_000017.9:g.70427720C>T NCBI36
NG_007882.1:g.8227G>A
NG_033062.1:g.756C>T
NG_007882.2:g.8234G>A
NG_033062.2:g.756C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.806G>A MANE Select ENSP00000480279.1:p.Arg269Gln
ENST00000579243.1:c.*405G>A ENSP00000462568.1:n.*405G>A
ENST00000614341.4:c.806G>A ENSP00000480279.1:p.Arg269Gln
NM_001282489.2:c.497G>A NP_001269418.1:p.Arg166Gln
NM_173477.4:c.806G>A NP_775748.2:p.Arg269Gln
XM_011524296.1:c.497G>A XP_011522598.1:p.Arg166Gln
XM_011524296.2:c.497G>A XP_011522598.1:p.Arg166Gln
NM_173477.5:c.806G>A MANE Select NP_775748.2:p.Arg269Gln
NM_001282489.3:c.497G>A NP_001269418.1:p.Arg166Gln
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