Canonical Allele Identifier: CA5904395

Gene: USH1C

Linked Data

• dbSNP Id: rs748034933
• ExAC: 11:17530918 G / A
• gnomAD v2: 11-17530918-G-A
• gnomAD v4: 11-17509371-G-A
• MyVariant Identifiers: chr11:g.17530918G>A (hg19) ; chr11:g.17509371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509371G>A , CM000673.2:g.17509371G>A	GRCh38
NC_000011.9:g.17530918G>A , CM000673.1:g.17530918G>A	GRCh37
NC_000011.8:g.17487494G>A	NCBI36
NG_011883.1:g.40046C>T
NG_011883.2:g.40046C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.1998C>T MANE Select	ENSP00000005226.7:p.Phe666=
ENST00000318024.9:c.1285-7391C>T MANE Plus Clinical	ENSP00000317018.4:n.1285-7391C>T
ENST00000005226.11:c.1998C>T	ENSP00000005226.7:p.Phe666=
ENST00000318024.8:c.1285-7391C>T	ENSP00000317018.4:n.1285-7391C>T
ENST00000526313.5:c.1211-7391C>T	ENSP00000432236.1:n.1211-7391C>T
ENST00000527020.5:c.1228-7391C>T	ENSP00000436934.1:n.1228-7391C>T
ENST00000527720.5:c.1192-7391C>T	ENSP00000432944.1:n.1192-7391C>T
ENST00000529563.5:n.168+7084C>T
NM_001297764.1:c.1228-7391C>T	NP_001284693.1:n.1228-7391C>T
NM_005709.3:c.1285-7391C>T	NP_005700.2:n.1285-7391C>T
NM_153676.3:c.1998C>T	NP_710142.1:p.Phe666=
NR_123738.1:n.1320-7391C>T
XM_011519831.1:c.2022C>T	XP_011518133.1:p.Phe674=
XM_011519832.1:c.1437+2531C>T	XP_011518134.1:n.1437+2531C>T
XM_011519833.1:c.1334+6870C>T	XP_011518135.1:n.1334+6870C>T
XR_930841.1:n.1655+2531C>T
XR_930842.1:n.1596+2531C>T
XM_011519832.3:c.1437+2531C>T	XP_011518134.1:n.1437+2531C>T
XM_017017072.1:c.2022C>T	XP_016872561.1:p.Phe674=
XM_017017073.1:c.1965C>T	XP_016872562.1:p.Phe655=
XM_017017074.1:c.1555-142C>T	XP_016872563.1:n.1555-142C>T
XM_017017075.1:c.1998C>T	XP_016872564.1:p.Phe666=
XR_001747717.2:n.1443+6870C>T
NM_153676.4:c.1998C>T MANE Select	NP_710142.1:p.Phe666=
NM_001297764.2:c.1228-7391C>T	NP_001284693.1:n.1228-7391C>T
NM_005709.4:c.1285-7391C>T MANE Plus Clinical	NP_005700.2:n.1285-7391C>T
NR_123738.2:n.1320-7391C>T