Canonical Allele Identifier: CA674239655

Gene: USH1C

Linked Data

• dbSNP Id: rs1178193276
• gnomAD v3: 11-17509175-T-G
• gnomAD v4: 11-17509175-T-G
• MyVariant Identifiers: chr11:g.17530722T>G (hg19) ; chr11:g.17509175T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509175T>G , CM000673.2:g.17509175T>G	GRCh38
NC_000011.9:g.17530722T>G , CM000673.1:g.17530722T>G	GRCh37
NC_000011.8:g.17487298T>G	NCBI36
NG_011883.1:g.40242A>C
NG_011883.2:g.40242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2013+181A>C MANE Select	ENSP00000005226.7:n.2013+181A>C
ENST00000318024.9:c.1285-7195A>C MANE Plus Clinical	ENSP00000317018.4:n.1285-7195A>C
ENST00000005226.11:c.2013+181A>C	ENSP00000005226.7:n.2013+181A>C
ENST00000318024.8:c.1285-7195A>C	ENSP00000317018.4:n.1285-7195A>C
ENST00000526313.5:c.1211-7195A>C	ENSP00000432236.1:n.1211-7195A>C
ENST00000527020.5:c.1228-7195A>C	ENSP00000436934.1:n.1228-7195A>C
ENST00000527720.5:c.1192-7195A>C	ENSP00000432944.1:n.1192-7195A>C
ENST00000529563.5:n.169-7195A>C
NM_001297764.1:c.1228-7195A>C	NP_001284693.1:n.1228-7195A>C
NM_005709.3:c.1285-7195A>C	NP_005700.2:n.1285-7195A>C
NM_153676.3:c.2013+181A>C	NP_710142.1:n.2013+181A>C
NR_123738.1:n.1320-7195A>C
XM_011519831.1:c.2037+181A>C	XP_011518133.1:n.2037+181A>C
XM_011519832.1:c.1437+2727A>C	XP_011518134.1:n.1437+2727A>C
XM_011519833.1:c.1334+7066A>C	XP_011518135.1:n.1334+7066A>C
XR_930841.1:n.1655+2727A>C
XR_930842.1:n.1596+2727A>C
XM_011519832.3:c.1437+2727A>C	XP_011518134.1:n.1437+2727A>C
XM_017017072.1:c.2092A>C	XP_016872561.1:p.Thr698Pro
XM_017017073.1:c.2035A>C	XP_016872562.1:p.Thr679Pro
XM_017017074.1:c.1609A>C	XP_016872563.1:p.Thr537Pro
XM_017017075.1:c.2013+181A>C	XP_016872564.1:n.2013+181A>C
XR_001747717.2:n.1443+7066A>C
NM_153676.4:c.2013+181A>C MANE Select	NP_710142.1:n.2013+181A>C
NM_001297764.2:c.1228-7195A>C	NP_001284693.1:n.1228-7195A>C
NM_005709.4:c.1285-7195A>C MANE Plus Clinical	NP_005700.2:n.1285-7195A>C
NR_123738.2:n.1320-7195A>C