Canonical Allele Identifier: CA379772549

Gene: USH1C

Linked Data

• dbSNP Id: rs1212842447
• gnomAD v2: 11-17530931-G-T
• gnomAD v3: 11-17509384-G-T
• gnomAD v4: 11-17509384-G-T
• MyVariant Identifiers: chr11:g.17530931G>T (hg19) ; chr11:g.17509384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509384G>T , CM000673.2:g.17509384G>T	GRCh38
NC_000011.9:g.17530931G>T , CM000673.1:g.17530931G>T	GRCh37
NC_000011.8:g.17487507G>T	NCBI36
NG_011883.1:g.40033C>A
NG_011883.2:g.40033C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1985C>A MANE Select	ENSP00000005226.7:p.Pro662His
ENST00000318024.9:c.1285-7404C>A MANE Plus Clinical	ENSP00000317018.4:n.1285-7404C>A
ENST00000005226.11:c.1985C>A	ENSP00000005226.7:p.Pro662His
ENST00000318024.8:c.1285-7404C>A	ENSP00000317018.4:n.1285-7404C>A
ENST00000526313.5:c.1211-7404C>A	ENSP00000432236.1:n.1211-7404C>A
ENST00000527020.5:c.1228-7404C>A	ENSP00000436934.1:n.1228-7404C>A
ENST00000527720.5:c.1192-7404C>A	ENSP00000432944.1:n.1192-7404C>A
ENST00000529563.5:n.168+7071C>A
NM_001297764.1:c.1228-7404C>A	NP_001284693.1:n.1228-7404C>A
NM_005709.3:c.1285-7404C>A	NP_005700.2:n.1285-7404C>A
NM_153676.3:c.1985C>A	NP_710142.1:p.Pro662His
NR_123738.1:n.1320-7404C>A
XM_011519831.1:c.2009C>A	XP_011518133.1:p.Pro670His
XM_011519832.1:c.1437+2518C>A	XP_011518134.1:n.1437+2518C>A
XM_011519833.1:c.1334+6857C>A	XP_011518135.1:n.1334+6857C>A
XR_930841.1:n.1655+2518C>A
XR_930842.1:n.1596+2518C>A
XM_011519832.3:c.1437+2518C>A	XP_011518134.1:n.1437+2518C>A
XM_017017072.1:c.2009C>A	XP_016872561.1:p.Pro670His
XM_017017073.1:c.1952C>A	XP_016872562.1:p.Pro651His
XM_017017074.1:c.1555-155C>A	XP_016872563.1:n.1555-155C>A
XM_017017075.1:c.1985C>A	XP_016872564.1:p.Pro662His
XR_001747717.2:n.1443+6857C>A
NM_153676.4:c.1985C>A MANE Select	NP_710142.1:p.Pro662His
NM_001297764.2:c.1228-7404C>A	NP_001284693.1:n.1228-7404C>A
NM_005709.4:c.1285-7404C>A MANE Plus Clinical	NP_005700.2:n.1285-7404C>A
NR_123738.2:n.1320-7404C>A