Canonical Allele Identifier: CA4181817
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21765500T>C
GRCh37 chr7:g.21805118T>C
Revel Score:
ENST00000328843 0.225
gnomAD v2:
7:21805118 T / C
gnomAD v4:
chr7-21765500-T-C
Joint Max Group AF 0.00004864 (NFE)
Exomes Max Group AF 0.00005161 (NFE)
ClinVar Allele:
302470
ClinVar RCV:
RCV000392966
ClinVar Variation:
359664
dbSNP:
369196786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21765500T>C , CM000669.2:g.21765500T>C GRCh38
NC_000007.13:g.21805118T>C , CM000669.1:g.21805118T>C GRCh37
NC_000007.12:g.21771643T>C NCBI36
NG_012886.2:g.227286T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.9013T>C MANE Select ENSP00000475939.1:p.Cys3005Arg
ENST00000328843.10:c.9034T>C ENSP00000330671.7:p.Cys3012Arg
ENST00000409508.7:c.9013T>C ENSP00000475939.1:p.Cys3005Arg
ENST00000620169.4:c.9034T>C ENSP00000481693.1:p.Cys3012Arg
NM_001277115.1:c.9013T>C NP_001264044.1:p.Cys3005Arg
NM_001277115.2:c.9013T>C MANE Select NP_001264044.1:p.Cys3005Arg
Search 100 bp 5'
Search 100 bp 3'