Canonical Allele Identifier: CA572917816
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1348799768
gnomAD v2: 7-21658887-A-T
MyVariant Identifiers: chr7:g.21658887A>T (hg19) chr7:g.21619269A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619269A>T , CM000669.2:g.21619269A>T GRCh38
NC_000007.13:g.21658887A>T , CM000669.1:g.21658887A>T GRCh37
NC_000007.12:g.21625412A>T NCBI36
NG_012886.2:g.81055A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4377+47A>T MANE Select ENSP00000475939.1:n.4377+47A>T
ENST00000328843.10:c.4392+47A>T ENSP00000330671.7:n.4392+47A>T
ENST00000409508.7:c.4377+47A>T ENSP00000475939.1:n.4377+47A>T
ENST00000465593.1:n.403+47A>T
ENST00000620169.4:c.4392+47A>T ENSP00000481693.1:n.4392+47A>T
NM_001277115.1:c.4377+47A>T NP_001264044.1:n.4377+47A>T
NM_001277115.2:c.4377+47A>T MANE Select NP_001264044.1:n.4377+47A>T
Search 100 bp 5'
Search 100 bp 3'