Canonical Allele Identifier: CA379803048

Gene: USH1C

Linked Data

• dbSNP Id: rs1326150281
• gnomAD v2: 11-17522644-C-A
• gnomAD v4: 11-17501097-C-A
• MyVariant Identifiers: chr11:g.17522644C>A (hg19) ; chr11:g.17501097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501097C>A , CM000673.2:g.17501097C>A	GRCh38
NC_000011.9:g.17522644C>A , CM000673.1:g.17522644C>A	GRCh37
NC_000011.8:g.17479220C>A	NCBI36
NG_011883.1:g.48320G>T
NG_011883.2:g.48320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2334G>T MANE Select	ENSP00000005226.7:p.Lys778Asn
ENST00000318024.9:c.1434G>T MANE Plus Clinical	ENSP00000317018.4:p.Lys478Asn
ENST00000005226.11:c.2334G>T	ENSP00000005226.7:p.Lys778Asn
ENST00000318024.8:c.1434G>T	ENSP00000317018.4:p.Lys478Asn
ENST00000526313.5:c.*148G>T	ENSP00000432236.1:n.*148G>T
ENST00000527020.5:c.1377G>T	ENSP00000436934.1:p.Lys459Asn
ENST00000527720.5:c.1341G>T	ENSP00000432944.1:p.Lys447Asn
ENST00000529563.5:n.318G>T
ENST00000534556.1:n.219G>T
NM_001297764.1:c.1377G>T	NP_001284693.1:p.Lys459Asn
NM_005709.3:c.1434G>T	NP_005700.2:p.Lys478Asn
NM_153676.3:c.2334G>T	NP_710142.1:p.Lys778Asn
NR_123738.1:n.1469G>T
XM_011519831.1:c.2358G>T	XP_011518133.1:p.Lys786Asn
XM_011519832.1:c.1587G>T	XP_011518134.1:p.Lys529Asn
XM_011519833.1:c.*41G>T	XP_011518135.1:n.*41G>T
XR_930841.1:n.1805G>T
XR_930842.1:n.1746G>T
XM_011519832.3:c.1587G>T	XP_011518134.1:p.Lys529Asn
XM_017017075.1:c.2334G>T	XP_016872564.1:p.Lys778Asn
XR_001747717.2:n.1593G>T
NM_153676.4:c.2334G>T MANE Select	NP_710142.1:p.Lys778Asn
NM_001297764.2:c.1377G>T	NP_001284693.1:p.Lys459Asn
NM_005709.4:c.1434G>T MANE Plus Clinical	NP_005700.2:p.Lys478Asn
NR_123738.2:n.1469G>T