Canonical Allele Identifier: CA379801376

Gene: USH1C

Linked Data

• gnomAD v4: 11-17498263-C-G
• MyVariant Identifiers: chr11:g.17519810C>G (hg19) ; chr11:g.17498263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498263C>G , CM000673.2:g.17498263C>G	GRCh38
NC_000011.9:g.17519810C>G , CM000673.1:g.17519810C>G	GRCh37
NC_000011.8:g.17476386C>G	NCBI36
NG_011883.1:g.51154G>C
NG_011883.2:g.51154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2389G>C MANE Select	ENSP00000005226.7:p.Val797Leu
ENST00000318024.9:c.1489G>C MANE Plus Clinical	ENSP00000317018.4:p.Val497Leu
ENST00000005226.11:c.2389G>C	ENSP00000005226.7:p.Val797Leu
ENST00000318024.8:c.1489G>C	ENSP00000317018.4:p.Val497Leu
ENST00000526313.5:c.*203G>C	ENSP00000432236.1:n.*203G>C
ENST00000527020.5:c.1432G>C	ENSP00000436934.1:p.Val478Leu
ENST00000527720.5:c.1396G>C	ENSP00000432944.1:p.Val466Leu
ENST00000529563.5:n.373G>C
NM_001297764.1:c.1432G>C	NP_001284693.1:p.Val478Leu
NM_005709.3:c.1489G>C	NP_005700.2:p.Val497Leu
NM_153676.3:c.2389G>C	NP_710142.1:p.Val797Leu
NR_123738.1:n.1524G>C
XM_011519831.1:c.2413G>C	XP_011518133.1:p.Val805Leu
XM_011519832.1:c.1642G>C	XP_011518134.1:p.Val548Leu
XM_011519832.3:c.1642G>C	XP_011518134.1:p.Val548Leu
XM_017017075.1:c.2389G>C	XP_016872564.1:p.Val797Leu
XR_001747717.2:n.1648G>C
NM_153676.4:c.2389G>C MANE Select	NP_710142.1:p.Val797Leu
NM_001297764.2:c.1432G>C	NP_001284693.1:p.Val478Leu
NM_005709.4:c.1489G>C MANE Plus Clinical	NP_005700.2:p.Val497Leu
NR_123738.2:n.1524G>C