Canonical Allele Identifier: CA379803453

Gene: USH1C

Linked Data

• dbSNP Id: rs1365223252
• gnomAD v2: 11-17523052-C-T
• gnomAD v4: 11-17501505-C-T
• COSMIC: COSM5341464 ; COSM5341465
• MyVariant Identifiers: chr11:g.17523052C>T (hg19) ; chr11:g.17501505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501505C>T , CM000673.2:g.17501505C>T	GRCh38
NC_000011.9:g.17523052C>T , CM000673.1:g.17523052C>T	GRCh37
NC_000011.8:g.17479628C>T	NCBI36
NG_011883.1:g.47912G>A
NG_011883.2:g.47912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2257G>A MANE Select	ENSP00000005226.7:p.Val753Ile
ENST00000318024.9:c.1357G>A MANE Plus Clinical	ENSP00000317018.4:p.Val453Ile
ENST00000005226.11:c.2257G>A	ENSP00000005226.7:p.Val753Ile
ENST00000318024.8:c.1357G>A	ENSP00000317018.4:p.Val453Ile
ENST00000526313.5:c.*71G>A	ENSP00000432236.1:n.*71G>A
ENST00000527020.5:c.1300G>A	ENSP00000436934.1:p.Val434Ile
ENST00000527720.5:c.1264G>A	ENSP00000432944.1:p.Val422Ile
ENST00000529563.5:n.241G>A
ENST00000534556.1:n.142G>A
NM_001297764.1:c.1300G>A	NP_001284693.1:p.Val434Ile
NM_005709.3:c.1357G>A	NP_005700.2:p.Val453Ile
NM_153676.3:c.2257G>A	NP_710142.1:p.Val753Ile
NR_123738.1:n.1392G>A
XM_011519831.1:c.2281G>A	XP_011518133.1:p.Val761Ile
XM_011519832.1:c.1510G>A	XP_011518134.1:p.Val504Ile
XM_011519833.1:c.1407G>A	XP_011518135.1:p.Met469Ile
XR_930841.1:n.1728G>A
XR_930842.1:n.1669G>A
XM_011519832.3:c.1510G>A	XP_011518134.1:p.Val504Ile
XM_017017075.1:c.2257G>A	XP_016872564.1:p.Val753Ile
XR_001747717.2:n.1516G>A
NM_153676.4:c.2257G>A MANE Select	NP_710142.1:p.Val753Ile
NM_001297764.2:c.1300G>A	NP_001284693.1:p.Val434Ile
NM_005709.4:c.1357G>A MANE Plus Clinical	NP_005700.2:p.Val453Ile
NR_123738.2:n.1392G>A