Canonical Allele Identifier: CA4181205
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21725923A>G
GRCh37 chr7:g.21765541A>G
Revel Score:
ENST00000328843 0.081
gnomAD v2:
7:21765541 A / G
gnomAD v3:
7:21725923 A / G
gnomAD v4:
chr7-21725923-A-G
Joint Max Group AF 0.00003046 (EAS)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00003538 (EAS)
ClinVar RCV:
RCV000477293
ClinVar Variation:
410844
dbSNP:
770671851
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21725923A>G , CM000669.2:g.21725923A>G GRCh38
NC_000007.13:g.21765541A>G , CM000669.1:g.21765541A>G GRCh37
NC_000007.12:g.21732066A>G NCBI36
NG_012886.2:g.187709A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.7379A>G MANE Select ENSP00000475939.1:p.Lys2460Arg
ENST00000328843.10:c.7400A>G ENSP00000330671.7:p.Lys2467Arg
ENST00000409508.7:c.7379A>G ENSP00000475939.1:p.Lys2460Arg
ENST00000620169.4:c.7400A>G ENSP00000481693.1:p.Lys2467Arg
NM_001277115.1:c.7379A>G NP_001264044.1:p.Lys2460Arg
NM_001277115.2:c.7379A>G MANE Select NP_001264044.1:p.Lys2460Arg
Search 100 bp 5'
Search 100 bp 3'