Canonical Allele Identifier: CA10630480

Gene: USH1C

Linked Data

• ClinVar Variation Id: 303798
• ClinVar RCV Id: RCV000355344
• dbSNP Id: rs886048058
• gnomAD v3: 11-17494192-G-A
• gnomAD v4: 11-17494192-G-A
• MyVariant Identifiers: chr11:g.17515739G>A (hg19) ; chr11:g.17494192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494192G>A , CM000673.2:g.17494192G>A	GRCh38
NC_000011.9:g.17515739G>A , CM000673.1:g.17515739G>A	GRCh37
NC_000011.8:g.17472315G>A	NCBI36
NG_011883.1:g.55225C>T
NG_011883.2:g.55225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.*140C>T MANE Select	ENSP00000005226.7:n.*140C>T
ENST00000318024.9:c.*172C>T MANE Plus Clinical	ENSP00000317018.4:n.*172C>T
ENST00000318024.8:c.*172C>T	ENSP00000317018.4:n.*172C>T
ENST00000526313.5:c.*545C>T	ENSP00000432236.1:n.*545C>T
ENST00000527020.5:c.*172C>T	ENSP00000436934.1:n.*172C>T
ENST00000527551.1:n.341C>T
ENST00000527720.5:c.*172C>T	ENSP00000432944.1:n.*172C>T
ENST00000529563.5:n.715C>T
ENST00000624811.1:n.902C>T
NM_001297764.1:c.*172C>T	NP_001284693.1:n.*172C>T
NM_005709.3:c.*172C>T	NP_005700.2:n.*172C>T
NM_153676.3:c.*140C>T	NP_710142.1:n.*140C>T
NR_123738.1:n.1866C>T
XM_011519831.1:c.*172C>T	XP_011518133.1:n.*172C>T
XM_011519832.1:c.*172C>T	XP_011518134.1:n.*172C>T
XM_011519832.3:c.*172C>T	XP_011518134.1:n.*172C>T
XR_001747717.2:n.1990C>T
NM_153676.4:c.*140C>T MANE Select	NP_710142.1:n.*140C>T
NM_001297764.2:c.*172C>T	NP_001284693.1:n.*172C>T
NM_005709.4:c.*172C>T MANE Plus Clinical	NP_005700.2:n.*172C>T
NR_123738.2:n.1866C>T