Canonical Allele Identifier: CA1394301
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 636130
ClinVar RCV Id: RCV000787744
dbSNP Id: rs746007103
ExAC: 1:215990406 C / A
gnomAD v2: 1-215990406-C-A
gnomAD v4: 1-215817064-C-A
MyVariant Identifiers: chr1:g.215990406C>A (hg19) chr1:g.215817064C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817064C>A , CM000663.2:g.215817064C>A GRCh38
NC_000001.10:g.215990406C>A , CM000663.1:g.215990406C>A GRCh37
NC_000001.9:g.214057029C>A NCBI36
NG_009497.1:g.611333G>T
NG_009497.2:g.611385G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9503G>T MANE Select ENSP00000305941.3:p.Cys3168Phe
ENST00000674083.1:c.9503G>T ENSP00000501296.1:p.Cys3168Phe
ENST00000307340.7:c.9503G>T ENSP00000305941.3:p.Cys3168Phe
NM_206933.2:c.9503G>T NP_996816.2:p.Cys3168Phe
NM_206933.3:c.9503G>T NP_996816.2:p.Cys3168Phe
NM_206933.4:c.9503G>T MANE Select NP_996816.3:p.Cys3168Phe
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