Canonical Allele Identifier: CA349577
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 219477
ClinVar RCV Id: RCV000205408 RCV000600436 RCV000998771 RCV003955223
dbSNP Id: rs189432084
ExAC: 7:21698453 A / G
gnomAD v2: 7-21698453-A-G
gnomAD v3: 7-21658835-A-G
gnomAD v4: 7-21658835-A-G
MyVariant Identifiers: chr7:g.21698453A>G (hg19) chr7:g.21658835A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21658835A>G , CM000669.2:g.21658835A>G GRCh38
NC_000007.13:g.21698453A>G , CM000669.1:g.21698453A>G GRCh37
NC_000007.12:g.21664978A>G NCBI36
NG_012886.2:g.120621A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.5132A>G MANE Select ENSP00000475939.1:p.Gln1711Arg
ENST00000328843.10:c.5147A>G ENSP00000330671.7:p.Gln1716Arg
ENST00000409508.7:c.5132A>G ENSP00000475939.1:p.Gln1711Arg
ENST00000620169.4:c.5147A>G ENSP00000481693.1:p.Gln1716Arg
NM_001277115.1:c.5132A>G NP_001264044.1:p.Gln1711Arg
NM_001277115.2:c.5132A>G MANE Select NP_001264044.1:p.Gln1711Arg
Search 100 bp 5'
Search 100 bp 3'