Canonical Allele Identifier: CA366931144
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1008083
ClinVar RCV Id: RCV001305359
dbSNP Id: rs1307384309
gnomAD v3: 7-21543349-T-G
gnomAD v4: 7-21543349-T-G
MyVariant Identifiers: chr7:g.21582967T>G (hg19) chr7:g.21543349T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543349T>G , CM000669.2:g.21543349T>G GRCh38
NC_000007.13:g.21582967T>G , CM000669.1:g.21582967T>G GRCh37
NC_000007.12:g.21549492T>G NCBI36
NG_012886.2:g.5135T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.104T>G MANE Select ENSP00000475939.1:p.Leu35Arg
ENST00000328843.10:c.104T>G ENSP00000330671.7:p.Leu35Arg
ENST00000409508.7:c.104T>G ENSP00000475939.1:p.Leu35Arg
ENST00000620169.4:c.104T>G ENSP00000481693.1:p.Leu35Arg
NM_001277115.1:c.104T>G NP_001264044.1:p.Leu35Arg
NM_001277115.2:c.104T>G MANE Select NP_001264044.1:p.Leu35Arg
Search 100 bp 5'
Search 100 bp 3'