Canonical Allele Identifier: CA379801259

Gene: USH1C

Linked Data

• ClinVar Variation Id: 958803
• ClinVar RCV Id: RCV001232033 ; RCV003462789
• dbSNP Id: rs371257969
• gnomAD v2: 11-17519798-C-A
• gnomAD v3: 11-17498251-C-A
• gnomAD v4: 11-17498251-C-A
• MyVariant Identifiers: chr11:g.17519798C>A (hg19) ; chr11:g.17498251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498251C>A , CM000673.2:g.17498251C>A	GRCh38
NC_000011.9:g.17519798C>A , CM000673.1:g.17519798C>A	GRCh37
NC_000011.8:g.17476374C>A	NCBI36
NG_011883.1:g.51166G>T
NG_011883.2:g.51166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2401G>T MANE Select	ENSP00000005226.7:p.Glu801Ter
ENST00000318024.9:c.1501G>T MANE Plus Clinical	ENSP00000317018.4:p.Glu501Ter
ENST00000005226.11:c.2401G>T	ENSP00000005226.7:p.Glu801Ter
ENST00000318024.8:c.1501G>T	ENSP00000317018.4:p.Glu501Ter
ENST00000526313.5:c.*215G>T	ENSP00000432236.1:n.*215G>T
ENST00000527020.5:c.1444G>T	ENSP00000436934.1:p.Glu482Ter
ENST00000527720.5:c.1408G>T	ENSP00000432944.1:p.Glu470Ter
ENST00000529563.5:n.385G>T
NM_001297764.1:c.1444G>T	NP_001284693.1:p.Glu482Ter
NM_005709.3:c.1501G>T	NP_005700.2:p.Glu501Ter
NM_153676.3:c.2401G>T	NP_710142.1:p.Glu801Ter
NR_123738.1:n.1536G>T
XM_011519831.1:c.2425G>T	XP_011518133.1:p.Glu809Ter
XM_011519832.1:c.1654G>T	XP_011518134.1:p.Glu552Ter
XM_011519832.3:c.1654G>T	XP_011518134.1:p.Glu552Ter
XM_017017075.1:c.2401G>T	XP_016872564.1:p.Glu801Ter
XR_001747717.2:n.1660G>T
NM_153676.4:c.2401G>T MANE Select	NP_710142.1:p.Glu801Ter
NM_001297764.2:c.1444G>T	NP_001284693.1:p.Glu482Ter
NM_005709.4:c.1501G>T MANE Plus Clinical	NP_005700.2:p.Glu501Ter
NR_123738.2:n.1536G>T