Canonical Allele Identifier: CA4180922
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21707816C>G
GRCh37 chr7:g.21747434C>G
Revel Score:
ENST00000328843 0.329
gnomAD v2:
7:21747434 C / G
gnomAD v3:
7:21707816 C / G
gnomAD v4:
chr7-21707816-C-G
Joint Max Group AF 0.00007117 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00007354 (NFE)
ClinVar RCV:
RCV000365804
RCV003615835
ClinVar Variation:
359644
dbSNP:
773498002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21707816C>G , CM000669.2:g.21707816C>G GRCh38
NC_000007.13:g.21747434C>G , CM000669.1:g.21747434C>G GRCh37
NC_000007.12:g.21713959C>G NCBI36
NG_012886.2:g.169602C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.6664C>G MANE Select ENSP00000475939.1:p.Arg2222Gly
ENST00000328843.10:c.6685C>G ENSP00000330671.7:p.Arg2229Gly
ENST00000409508.7:c.6664C>G ENSP00000475939.1:p.Arg2222Gly
ENST00000620169.4:c.6685C>G ENSP00000481693.1:p.Arg2229Gly
NM_001277115.1:c.6664C>G NP_001264044.1:p.Arg2222Gly
NM_001277115.2:c.6664C>G MANE Select NP_001264044.1:p.Arg2222Gly
Search 100 bp 5'
Search 100 bp 3'