Canonical Allele Identifier: CA1955170035

Gene: USH1C

Linked Data

• dbSNP Id: rs1849182345
• gnomAD v3: 11-17494649-A-C
• gnomAD v4: 11-17494649-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494649A>C , CM000673.2:g.17494649A>C	GRCh38
NC_000011.9:g.17516196A>C , CM000673.1:g.17516196A>C	GRCh37
NC_000011.8:g.17472772A>C	NCBI36
NG_011883.1:g.54768T>G
NG_011883.2:g.54768T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2656-273T>G MANE Select	ENSP00000005226.7:n.2656-273T>G
ENST00000318024.9:c.1647-273T>G MANE Plus Clinical	ENSP00000317018.4:n.1647-273T>G
ENST00000005226.11:c.2656-273T>G	ENSP00000005226.7:n.2656-273T>G
ENST00000318024.8:c.1647-273T>G	ENSP00000317018.4:n.1647-273T>G
ENST00000526313.5:c.*361-273T>G	ENSP00000432236.1:n.*361-273T>G
ENST00000527020.5:c.1590-273T>G	ENSP00000436934.1:n.1590-273T>G
ENST00000527551.1:n.157-273T>G
ENST00000527720.5:c.1554-273T>G	ENSP00000432944.1:n.1554-273T>G
ENST00000529563.5:n.531-273T>G
ENST00000624811.1:n.445T>G
NM_001297764.1:c.1590-273T>G	NP_001284693.1:n.1590-273T>G
NM_005709.3:c.1647-273T>G	NP_005700.2:n.1647-273T>G
NM_153676.3:c.2656-273T>G	NP_710142.1:n.2656-273T>G
NR_123738.1:n.1682-273T>G
XM_011519831.1:c.2571-273T>G	XP_011518133.1:n.2571-273T>G
XM_011519832.1:c.1800-273T>G	XP_011518134.1:n.1800-273T>G
XM_011519832.3:c.1800-273T>G	XP_011518134.1:n.1800-273T>G
XM_017017075.1:c.*704T>G	XP_016872564.1:n.*704T>G
XR_001747717.2:n.1806-273T>G
NM_153676.4:c.2656-273T>G MANE Select	NP_710142.1:n.2656-273T>G
NM_001297764.2:c.1590-273T>G	NP_001284693.1:n.1590-273T>G
NM_005709.4:c.1647-273T>G MANE Plus Clinical	NP_005700.2:n.1647-273T>G
NR_123738.2:n.1682-273T>G