Canonical Allele Identifier: CA836625468
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1166796187
gnomAD v3: 7-21619360-G-A
gnomAD v4: 7-21619360-G-A
MyVariant Identifiers: chr7:g.21658978G>A (hg19) chr7:g.21619360G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619360G>A , CM000669.2:g.21619360G>A GRCh38
NC_000007.13:g.21658978G>A , CM000669.1:g.21658978G>A GRCh37
NC_000007.12:g.21625503G>A NCBI36
NG_012886.2:g.81146G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4377+138G>A MANE Select ENSP00000475939.1:n.4377+138G>A
ENST00000328843.10:c.4392+138G>A ENSP00000330671.7:n.4392+138G>A
ENST00000409508.7:c.4377+138G>A ENSP00000475939.1:n.4377+138G>A
ENST00000465593.1:n.403+138G>A
ENST00000620169.4:c.4392+138G>A ENSP00000481693.1:n.4392+138G>A
NM_001277115.1:c.4377+138G>A NP_001264044.1:n.4377+138G>A
NM_001277115.2:c.4377+138G>A MANE Select NP_001264044.1:n.4377+138G>A
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