Canonical Allele Identifier: CA5904059

Gene: USH1C

Linked Data

• ClinVar Variation Id: 262733
• ClinVar RCV Id: RCV000241835 ; RCV000829571 ; RCV002244709 ; RCV002244710
• dbSNP Id: rs2072225
• ExAC: 11:17515970 G / A
• gnomAD v2: 11-17515970-G-A
• gnomAD v3: 11-17494423-G-A
• gnomAD v4: 11-17494423-G-A
• MyVariant Identifiers: chr11:g.17515970G>A (hg19) ; chr11:g.17494423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494423G>A , CM000673.2:g.17494423G>A	GRCh38
NC_000011.9:g.17515970G>A , CM000673.1:g.17515970G>A	GRCh37
NC_000011.8:g.17472546G>A	NCBI36
NG_011883.1:g.54994C>T
NG_011883.2:g.54994C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2656-47C>T MANE Select	ENSP00000005226.7:n.2656-47C>T
ENST00000318024.9:c.1647-47C>T MANE Plus Clinical	ENSP00000317018.4:n.1647-47C>T
ENST00000005226.11:c.2656-47C>T	ENSP00000005226.7:n.2656-47C>T
ENST00000318024.8:c.1647-47C>T	ENSP00000317018.4:n.1647-47C>T
ENST00000526313.5:c.*361-47C>T	ENSP00000432236.1:n.*361-47C>T
ENST00000527020.5:c.1590-47C>T	ENSP00000436934.1:n.1590-47C>T
ENST00000527551.1:n.157-47C>T
ENST00000527720.5:c.1554-47C>T	ENSP00000432944.1:n.1554-47C>T
ENST00000529563.5:n.531-47C>T
ENST00000624811.1:n.671C>T
NM_001297764.1:c.1590-47C>T	NP_001284693.1:n.1590-47C>T
NM_005709.3:c.1647-47C>T	NP_005700.2:n.1647-47C>T
NM_153676.3:c.2656-47C>T	NP_710142.1:n.2656-47C>T
NR_123738.1:n.1682-47C>T
XM_011519831.1:c.2571-47C>T	XP_011518133.1:n.2571-47C>T
XM_011519832.1:c.1800-47C>T	XP_011518134.1:n.1800-47C>T
XM_011519832.3:c.1800-47C>T	XP_011518134.1:n.1800-47C>T
XM_017017075.1:c.*930C>T	XP_016872564.1:n.*930C>T
XR_001747717.2:n.1806-47C>T
NM_153676.4:c.2656-47C>T MANE Select	NP_710142.1:n.2656-47C>T
NM_001297764.2:c.1590-47C>T	NP_001284693.1:n.1590-47C>T
NM_005709.4:c.1647-47C>T MANE Plus Clinical	NP_005700.2:n.1647-47C>T
NR_123738.2:n.1682-47C>T