Canonical Allele Identifier: CA366944519
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v3: 7-21599956-C-A
gnomAD v4: 7-21599956-C-A
MyVariant Identifiers: chr7:g.21639574C>A (hg19) chr7:g.21599956C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599956C>A , CM000669.2:g.21599956C>A GRCh38
NC_000007.13:g.21639574C>A , CM000669.1:g.21639574C>A GRCh37
NC_000007.12:g.21606099C>A NCBI36
NG_012886.2:g.61742C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2837C>A MANE Select ENSP00000475939.1:p.Ala946Glu
ENST00000328843.10:c.2837C>A ENSP00000330671.7:p.Ala946Glu
ENST00000409508.7:c.2837C>A ENSP00000475939.1:p.Ala946Glu
ENST00000620169.4:c.2837C>A ENSP00000481693.1:p.Ala946Glu
NM_001277115.1:c.2837C>A NP_001264044.1:p.Ala946Glu
NM_001277115.2:c.2837C>A MANE Select NP_001264044.1:p.Ala946Glu
Search 100 bp 5'
Search 100 bp 3'