Canonical Allele Identifier: CA572920096
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1238717550
gnomAD v2: 7-21745186-A-G
gnomAD v4: 7-21705568-A-G
MyVariant Identifiers: chr7:g.21745186A>G (hg19) chr7:g.21705568A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705568A>G , CM000669.2:g.21705568A>G GRCh38
NC_000007.13:g.21745186A>G , CM000669.1:g.21745186A>G GRCh37
NC_000007.12:g.21711711A>G NCBI36
NG_012886.2:g.167354A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.6546+31A>G MANE Select ENSP00000475939.1:n.6546+31A>G
ENST00000328843.10:c.6567+31A>G ENSP00000330671.7:n.6567+31A>G
ENST00000409508.7:c.6546+31A>G ENSP00000475939.1:n.6546+31A>G
ENST00000620169.4:c.6567+31A>G ENSP00000481693.1:n.6567+31A>G
NM_001277115.1:c.6546+31A>G NP_001264044.1:n.6546+31A>G
NM_001277115.2:c.6546+31A>G MANE Select NP_001264044.1:n.6546+31A>G
Search 100 bp 5'
Search 100 bp 3'