Canonical Allele Identifier: CA4179991
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2715475
ClinVar RCV Id: RCV003537684
dbSNP Id: rs771639240
ExAC: 7:21658759 G / C
gnomAD v2: 7-21658759-G-C
gnomAD v4: 7-21619141-G-C
MyVariant Identifiers: chr7:g.21658759G>C (hg19) chr7:g.21619141G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619141G>C , CM000669.2:g.21619141G>C GRCh38
NC_000007.13:g.21658759G>C , CM000669.1:g.21658759G>C GRCh37
NC_000007.12:g.21625284G>C NCBI36
NG_012886.2:g.80927G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4296G>C MANE Select ENSP00000475939.1:p.Leu1432Phe
ENST00000328843.10:c.4311G>C ENSP00000330671.7:p.Leu1437Phe
ENST00000409508.7:c.4296G>C ENSP00000475939.1:p.Leu1432Phe
ENST00000465593.1:n.322G>C
ENST00000620169.4:c.4311G>C ENSP00000481693.1:p.Leu1437Phe
NM_001277115.1:c.4296G>C NP_001264044.1:p.Leu1432Phe
NM_001277115.2:c.4296G>C MANE Select NP_001264044.1:p.Leu1432Phe
Search 100 bp 5'
Search 100 bp 3'