Canonical Allele Identifier: CA379800740

Gene: USH1C

Linked Data

• dbSNP Id: rs1314409317
• gnomAD v2: 11-17519746-G-A
• gnomAD v4: 11-17498199-G-A
• MyVariant Identifiers: chr11:g.17519746G>A (hg19) ; chr11:g.17498199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498199G>A , CM000673.2:g.17498199G>A	GRCh38
NC_000011.9:g.17519746G>A , CM000673.1:g.17519746G>A	GRCh37
NC_000011.8:g.17476322G>A	NCBI36
NG_011883.1:g.51218C>T
NG_011883.2:g.51218C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2453C>T MANE Select	ENSP00000005226.7:p.Ala818Val
ENST00000318024.9:c.1553C>T MANE Plus Clinical	ENSP00000317018.4:p.Ala518Val
ENST00000005226.11:c.2453C>T	ENSP00000005226.7:p.Ala818Val
ENST00000318024.8:c.1553C>T	ENSP00000317018.4:p.Ala518Val
ENST00000526313.5:c.*267C>T	ENSP00000432236.1:n.*267C>T
ENST00000527020.5:c.1496C>T	ENSP00000436934.1:p.Ala499Val
ENST00000527720.5:c.1460C>T	ENSP00000432944.1:p.Ala487Val
ENST00000529563.5:n.437C>T
NM_001297764.1:c.1496C>T	NP_001284693.1:p.Ala499Val
NM_005709.3:c.1553C>T	NP_005700.2:p.Ala518Val
NM_153676.3:c.2453C>T	NP_710142.1:p.Ala818Val
NR_123738.1:n.1588C>T
XM_011519831.1:c.2477C>T	XP_011518133.1:p.Ala826Val
XM_011519832.1:c.1706C>T	XP_011518134.1:p.Ala569Val
XM_011519832.3:c.1706C>T	XP_011518134.1:p.Ala569Val
XM_017017075.1:c.2453C>T	XP_016872564.1:p.Ala818Val
XR_001747717.2:n.1712C>T
NM_153676.4:c.2453C>T MANE Select	NP_710142.1:p.Ala818Val
NM_001297764.2:c.1496C>T	NP_001284693.1:p.Ala499Val
NM_005709.4:c.1553C>T MANE Plus Clinical	NP_005700.2:p.Ala518Val
NR_123738.2:n.1588C>T