Canonical Allele Identifier: CA8753909
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1038046
ClinVar RCV Id: RCV001341295
dbSNP Id: rs117489945
ExAC: 17:72915706 G / C
gnomAD v2: 17-72915706-G-C
gnomAD v3: 17-74919611-G-C
gnomAD v4: 17-74919611-G-C
MyVariant Identifiers: chr17:g.72915706G>C (hg19) chr17:g.74919611G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919611G>C , CM000679.2:g.74919611G>C GRCh38
NC_000017.10:g.72915706G>C , CM000679.1:g.72915706G>C GRCh37
NC_000017.9:g.70427301G>C NCBI36
NG_007882.1:g.8646C>G
NG_033062.1:g.337G>C
NG_007882.2:g.8653C>G
NG_033062.2:g.337G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1225C>G MANE Select ENSP00000480279.1:p.Arg409Gly
ENST00000579243.1:c.*824C>G ENSP00000462568.1:n.*824C>G
ENST00000614341.4:c.1225C>G ENSP00000480279.1:p.Arg409Gly
NM_001282489.2:c.916C>G NP_001269418.1:p.Arg306Gly
NM_173477.4:c.1225C>G NP_775748.2:p.Arg409Gly
XM_011524296.1:c.916C>G XP_011522598.1:p.Arg306Gly
XM_011524296.2:c.916C>G XP_011522598.1:p.Arg306Gly
NM_173477.5:c.1225C>G MANE Select NP_775748.2:p.Arg409Gly
NM_001282489.3:c.916C>G NP_001269418.1:p.Arg306Gly
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