Canonical Allele Identifier: CA182559

Gene: USH1C

Linked Data

• ClinVar Variation Id: 178561
• ClinVar RCV Id: RCV000155309 ; RCV000902274
• dbSNP Id: rs143860238
• ExAC: 11:17518313 G / A
• gnomAD v2: 11-17518313-G-A
• gnomAD v3: 11-17496766-G-A
• gnomAD v4: 11-17496766-G-A
• MyVariant Identifiers: chr11:g.17518313G>A (hg19) ; chr11:g.17496766G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17496766G>A , CM000673.2:g.17496766G>A	GRCh38
NC_000011.9:g.17518313G>A , CM000673.1:g.17518313G>A	GRCh37
NC_000011.8:g.17474889G>A	NCBI36
NG_011883.1:g.52651C>T
NG_011883.2:g.52651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2538C>T MANE Select	ENSP00000005226.7:p.Asp846=
ENST00000318024.9:c.1638C>T MANE Plus Clinical	ENSP00000317018.4:p.Asp546=
ENST00000005226.11:c.2538C>T	ENSP00000005226.7:p.Asp846=
ENST00000318024.8:c.1638C>T	ENSP00000317018.4:p.Asp546=
ENST00000526313.5:c.*352C>T	ENSP00000432236.1:n.*352C>T
ENST00000527020.5:c.1581C>T	ENSP00000436934.1:p.Asp527=
ENST00000527551.1:n.148C>T
ENST00000527720.5:c.1545C>T	ENSP00000432944.1:p.Asp515=
ENST00000529563.5:n.522C>T
NM_001297764.1:c.1581C>T	NP_001284693.1:p.Asp527=
NM_005709.3:c.1638C>T	NP_005700.2:p.Asp546=
NM_153676.3:c.2538C>T	NP_710142.1:p.Asp846=
NR_123738.1:n.1673C>T
XM_011519831.1:c.2562C>T	XP_011518133.1:p.Asp854=
XM_011519832.1:c.1791C>T	XP_011518134.1:p.Asp597=
XM_011519832.3:c.1791C>T	XP_011518134.1:p.Asp597=
XM_017017075.1:c.2538C>T	XP_016872564.1:p.Asp846=
XR_001747717.2:n.1797C>T
NM_153676.4:c.2538C>T MANE Select	NP_710142.1:p.Asp846=
NM_001297764.2:c.1581C>T	NP_001284693.1:p.Asp527=
NM_005709.4:c.1638C>T MANE Plus Clinical	NP_005700.2:p.Asp546=
NR_123738.2:n.1673C>T