Canonical Allele Identifier: CA473305237

Gene: USH1C

Linked Data

• gnomAD v4: 11-17501052-A-G
• MyVariant Identifiers: chr11:g.17522599A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501052A>G , CM000673.2:g.17501052A>G	GRCh38
NC_000011.9:g.17522599A>G , CM000673.1:g.17522599A>G	GRCh37
NC_000011.8:g.17479175A>G	NCBI36
NG_011883.1:g.48365T>C
NG_011883.2:g.48365T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2379T>C MANE Select	ENSP00000005226.7:p.His793=
ENST00000318024.9:c.1479T>C MANE Plus Clinical	ENSP00000317018.4:p.His493=
ENST00000005226.11:c.2379T>C	ENSP00000005226.7:p.His793=
ENST00000318024.8:c.1479T>C	ENSP00000317018.4:p.His493=
ENST00000526313.5:c.*193T>C	ENSP00000432236.1:n.*193T>C
ENST00000527020.5:c.1422T>C	ENSP00000436934.1:p.His474=
ENST00000527720.5:c.1386T>C	ENSP00000432944.1:p.His462=
ENST00000529563.5:n.363T>C
NM_001297764.1:c.1422T>C	NP_001284693.1:p.His474=
NM_005709.3:c.1479T>C	NP_005700.2:p.His493=
NM_153676.3:c.2379T>C	NP_710142.1:p.His793=
NR_123738.1:n.1514T>C
XM_011519831.1:c.2403T>C	XP_011518133.1:p.His801=
XM_011519832.1:c.1632T>C	XP_011518134.1:p.His544=
XM_011519833.1:c.*86T>C	XP_011518135.1:n.*86T>C
XR_930841.1:n.1850T>C
XR_930842.1:n.1791T>C
XM_011519832.3:c.1632T>C	XP_011518134.1:p.His544=
XM_017017075.1:c.2379T>C	XP_016872564.1:p.His793=
XR_001747717.2:n.1638T>C
NM_153676.4:c.2379T>C MANE Select	NP_710142.1:p.His793=
NM_001297764.2:c.1422T>C	NP_001284693.1:p.His474=
NM_005709.4:c.1479T>C MANE Plus Clinical	NP_005700.2:p.His493=
NR_123738.2:n.1514T>C