Canonical Allele Identifier: CA4182361
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs769257503
ExAC: 7:21856179 A / T
gnomAD v2: 7-21856179-A-T
gnomAD v3: 7-21816561-A-T
gnomAD v4: 7-21816561-A-T
MyVariant Identifiers: chr7:g.21856179A>T (hg19) chr7:g.21816561A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816561A>T , CM000669.2:g.21816561A>T GRCh38
NC_000007.13:g.21856179A>T , CM000669.1:g.21856179A>T GRCh37
NC_000007.12:g.21822704A>T NCBI36
NG_012886.2:g.278347A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10427A>T MANE Select ENSP00000475939.1:p.Asp3476Val
ENST00000328843.10:c.10448A>T ENSP00000330671.7:p.Asp3483Val
ENST00000409508.7:c.10427A>T ENSP00000475939.1:p.Asp3476Val
ENST00000620169.4:c.10448A>T ENSP00000481693.1:p.Asp3483Val
NM_001277115.1:c.10427A>T NP_001264044.1:p.Asp3476Val
NM_001277115.2:c.10427A>T MANE Select NP_001264044.1:p.Asp3476Val
Search 100 bp 5'
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