Canonical Allele Identifier: CA218483226

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2193365
• ClinVar RCV Id: RCV002643977
• dbSNP Id: rs1049551355
• gnomAD v2: 11-17519791-A-G
• gnomAD v3: 11-17498244-A-G
• gnomAD v4: 11-17498244-A-G
• MyVariant Identifiers: chr11:g.17519791A>G (hg19) ; chr11:g.17498244A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498244A>G , CM000673.2:g.17498244A>G	GRCh38
NC_000011.9:g.17519791A>G , CM000673.1:g.17519791A>G	GRCh37
NC_000011.8:g.17476367A>G	NCBI36
NG_011883.1:g.51173T>C
NG_011883.2:g.51173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2408T>C MANE Select	ENSP00000005226.7:p.Met803Thr
ENST00000318024.9:c.1508T>C MANE Plus Clinical	ENSP00000317018.4:p.Met503Thr
ENST00000005226.11:c.2408T>C	ENSP00000005226.7:p.Met803Thr
ENST00000318024.8:c.1508T>C	ENSP00000317018.4:p.Met503Thr
ENST00000526313.5:c.*222T>C	ENSP00000432236.1:n.*222T>C
ENST00000527020.5:c.1451T>C	ENSP00000436934.1:p.Met484Thr
ENST00000527720.5:c.1415T>C	ENSP00000432944.1:p.Met472Thr
ENST00000529563.5:n.392T>C
NM_001297764.1:c.1451T>C	NP_001284693.1:p.Met484Thr
NM_005709.3:c.1508T>C	NP_005700.2:p.Met503Thr
NM_153676.3:c.2408T>C	NP_710142.1:p.Met803Thr
NR_123738.1:n.1543T>C
XM_011519831.1:c.2432T>C	XP_011518133.1:p.Met811Thr
XM_011519832.1:c.1661T>C	XP_011518134.1:p.Met554Thr
XM_011519832.3:c.1661T>C	XP_011518134.1:p.Met554Thr
XM_017017075.1:c.2408T>C	XP_016872564.1:p.Met803Thr
XR_001747717.2:n.1667T>C
NM_153676.4:c.2408T>C MANE Select	NP_710142.1:p.Met803Thr
NM_001297764.2:c.1451T>C	NP_001284693.1:p.Met484Thr
NM_005709.4:c.1508T>C MANE Plus Clinical	NP_005700.2:p.Met503Thr
NR_123738.2:n.1543T>C