Canonical Allele Identifier: CA453963424
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21599820-C-T
MyVariant Identifiers: chr7:g.21639438C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599820C>T , CM000669.2:g.21599820C>T GRCh38
NC_000007.13:g.21639438C>T , CM000669.1:g.21639438C>T GRCh37
NC_000007.12:g.21605963C>T NCBI36
NG_012886.2:g.61606C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2701C>T MANE Select ENSP00000475939.1:p.Leu901=
ENST00000328843.10:c.2701C>T ENSP00000330671.7:p.Leu901=
ENST00000409508.7:c.2701C>T ENSP00000475939.1:p.Leu901=
ENST00000620169.4:c.2701C>T ENSP00000481693.1:p.Leu901=
NM_001277115.1:c.2701C>T NP_001264044.1:p.Leu901=
NM_001277115.2:c.2701C>T MANE Select NP_001264044.1:p.Leu901=
Search 100 bp 5'
Search 100 bp 3'