Canonical Allele Identifier: CA453966677
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2904918
ClinVar RCV Id: RCV003651566
gnomAD v4: 7-21816616-G-T
MyVariant Identifiers: chr7:g.21856234G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816616G>T , CM000669.2:g.21816616G>T GRCh38
NC_000007.13:g.21856234G>T , CM000669.1:g.21856234G>T GRCh37
NC_000007.12:g.21822759G>T NCBI36
NG_012886.2:g.278402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10482G>T MANE Select ENSP00000475939.1:p.Leu3494=
ENST00000328843.10:c.10503G>T ENSP00000330671.7:p.Leu3501=
ENST00000409508.7:c.10482G>T ENSP00000475939.1:p.Leu3494=
ENST00000620169.4:c.10503G>T ENSP00000481693.1:p.Leu3501=
NM_001277115.1:c.10482G>T NP_001264044.1:p.Leu3494=
NM_001277115.2:c.10482G>T MANE Select NP_001264044.1:p.Leu3494=
Search 100 bp 5'
Search 100 bp 3'