Canonical Allele Identifier: CA366944485
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs772478778
gnomAD v2: 7-21639556-C-A
MyVariant Identifiers: chr7:g.21639556C>A (hg19) chr7:g.21599938C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599938C>A , CM000669.2:g.21599938C>A GRCh38
NC_000007.13:g.21639556C>A , CM000669.1:g.21639556C>A GRCh37
NC_000007.12:g.21606081C>A NCBI36
NG_012886.2:g.61724C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2819C>A MANE Select ENSP00000475939.1:p.Pro940Gln
ENST00000328843.10:c.2819C>A ENSP00000330671.7:p.Pro940Gln
ENST00000409508.7:c.2819C>A ENSP00000475939.1:p.Pro940Gln
ENST00000620169.4:c.2819C>A ENSP00000481693.1:p.Pro940Gln
NM_001277115.1:c.2819C>A NP_001264044.1:p.Pro940Gln
NM_001277115.2:c.2819C>A MANE Select NP_001264044.1:p.Pro940Gln
Search 100 bp 5'
Search 100 bp 3'