Canonical Allele Identifier: CA366952603
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1474125
ClinVar RCV Id: RCV002005432
dbSNP Id: rs1785921849
MyVariant Identifiers: chr7:g.21658779G>T (hg19) chr7:g.21619161G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619161G>T , CM000669.2:g.21619161G>T GRCh38
NC_000007.13:g.21658779G>T , CM000669.1:g.21658779G>T GRCh37
NC_000007.12:g.21625304G>T NCBI36
NG_012886.2:g.80947G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4316G>T MANE Select ENSP00000475939.1:p.Arg1439Ile
ENST00000328843.10:c.4331G>T ENSP00000330671.7:p.Arg1444Ile
ENST00000409508.7:c.4316G>T ENSP00000475939.1:p.Arg1439Ile
ENST00000465593.1:n.342G>T
ENST00000620169.4:c.4331G>T ENSP00000481693.1:p.Arg1444Ile
NM_001277115.1:c.4316G>T NP_001264044.1:p.Arg1439Ile
NM_001277115.2:c.4316G>T MANE Select NP_001264044.1:p.Arg1439Ile
Search 100 bp 5'
Search 100 bp 3'