Canonical Allele Identifier: CA293981974
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 891843
ClinVar RCV Id: RCV001127384
dbSNP Id: rs528602466
gnomAD v2: 17-72913600-G-C
gnomAD v3: 17-74917506-G-C
gnomAD v4: 17-74917506-G-C
MyVariant Identifiers: chr17:g.72913600G>C (hg19) chr17:g.74917506G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917506G>C , CM000679.2:g.74917506G>C GRCh38
NC_000017.10:g.72913600G>C , CM000679.1:g.72913600G>C GRCh37
NC_000017.9:g.70425195G>C NCBI36
NG_007882.1:g.10752C>G
NG_007882.2:g.10758C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*567C>G MANE Select ENSP00000480279.1:n.*567C>G
ENST00000614341.4:c.*567C>G ENSP00000480279.1:n.*567C>G
NM_001282489.2:c.*567C>G NP_001269418.1:n.*567C>G
NM_173477.4:c.*567C>G NP_775748.2:n.*567C>G
XM_011524296.1:c.*567C>G XP_011522598.1:n.*567C>G
XM_011524296.2:c.*567C>G XP_011522598.1:n.*567C>G
NM_173477.5:c.*567C>G MANE Select NP_775748.2:n.*567C>G
NM_001282489.3:c.*567C>G NP_001269418.1:n.*567C>G
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