Canonical Allele Identifier: CA379803573

Gene: USH1C

Linked Data

• dbSNP Id: rs1487696429
• gnomAD v2: 11-17523070-G-A
• gnomAD v4: 11-17501523-G-A
• MyVariant Identifiers: chr11:g.17523070G>A (hg19) ; chr11:g.17501523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501523G>A , CM000673.2:g.17501523G>A	GRCh38
NC_000011.9:g.17523070G>A , CM000673.1:g.17523070G>A	GRCh37
NC_000011.8:g.17479646G>A	NCBI36
NG_011883.1:g.47894C>T
NG_011883.2:g.47894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2239C>T MANE Select	ENSP00000005226.7:p.Gln747Ter
ENST00000318024.9:c.1339C>T MANE Plus Clinical	ENSP00000317018.4:p.Gln447Ter
ENST00000005226.11:c.2239C>T	ENSP00000005226.7:p.Gln747Ter
ENST00000318024.8:c.1339C>T	ENSP00000317018.4:p.Gln447Ter
ENST00000526313.5:c.*53C>T	ENSP00000432236.1:n.*53C>T
ENST00000527020.5:c.1282C>T	ENSP00000436934.1:p.Gln428Ter
ENST00000527720.5:c.1246C>T	ENSP00000432944.1:p.Gln416Ter
ENST00000529563.5:n.223C>T
ENST00000534556.1:n.124C>T
NM_001297764.1:c.1282C>T	NP_001284693.1:p.Gln428Ter
NM_005709.3:c.1339C>T	NP_005700.2:p.Gln447Ter
NM_153676.3:c.2239C>T	NP_710142.1:p.Gln747Ter
NR_123738.1:n.1374C>T
XM_011519831.1:c.2263C>T	XP_011518133.1:p.Gln755Ter
XM_011519832.1:c.1492C>T	XP_011518134.1:p.Gln498Ter
XM_011519833.1:c.1389C>T	XP_011518135.1:p.Ser463=
XR_930841.1:n.1710C>T
XR_930842.1:n.1651C>T
XM_011519832.3:c.1492C>T	XP_011518134.1:p.Gln498Ter
XM_017017075.1:c.2239C>T	XP_016872564.1:p.Gln747Ter
XR_001747717.2:n.1498C>T
NM_153676.4:c.2239C>T MANE Select	NP_710142.1:p.Gln747Ter
NM_001297764.2:c.1282C>T	NP_001284693.1:p.Gln428Ter
NM_005709.4:c.1339C>T MANE Plus Clinical	NP_005700.2:p.Gln447Ter
NR_123738.2:n.1374C>T