Canonical Allele Identifier: CA366933437
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21636016-T-A
MyVariant Identifiers: chr7:g.21675634T>A (hg19) chr7:g.21636016T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21636016T>A , CM000669.2:g.21636016T>A GRCh38
NC_000007.13:g.21675634T>A , CM000669.1:g.21675634T>A GRCh37
NC_000007.12:g.21642159T>A NCBI36
NG_012886.2:g.97802T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4646T>A MANE Select ENSP00000475939.1:p.Ile1549Asn
ENST00000328843.10:c.4661T>A ENSP00000330671.7:p.Ile1554Asn
ENST00000409508.7:c.4646T>A ENSP00000475939.1:p.Ile1549Asn
ENST00000465593.1:n.672T>A
ENST00000620169.4:c.4661T>A ENSP00000481693.1:p.Ile1554Asn
NM_001277115.1:c.4646T>A NP_001264044.1:p.Ile1549Asn
NM_001277115.2:c.4646T>A MANE Select NP_001264044.1:p.Ile1549Asn
Search 100 bp 5'
Search 100 bp 3'