Canonical Allele Identifier: CA4179649
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 359621
ClinVar RCV Id: RCV000339106 RCV001257433 RCV002464189
dbSNP Id: rs117830543
ExAC: 7:21641058 T / G
gnomAD v2: 7-21641058-T-G
gnomAD v3: 7-21601440-T-G
gnomAD v4: 7-21601440-T-G
MyVariant Identifiers: chr7:g.21641058T>G (hg19) chr7:g.21601440T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21601440T>G , CM000669.2:g.21601440T>G GRCh38
NC_000007.13:g.21641058T>G , CM000669.1:g.21641058T>G GRCh37
NC_000007.12:g.21607583T>G NCBI36
NG_012886.2:g.63226T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.3470T>G MANE Select ENSP00000475939.1:p.Leu1157Arg
ENST00000328843.10:c.3470T>G ENSP00000330671.7:p.Leu1157Arg
ENST00000409508.7:c.3470T>G ENSP00000475939.1:p.Leu1157Arg
ENST00000620169.4:c.3470T>G ENSP00000481693.1:p.Leu1157Arg
NM_001277115.1:c.3470T>G NP_001264044.1:p.Leu1157Arg
NM_001277115.2:c.3470T>G MANE Select NP_001264044.1:p.Leu1157Arg
Search 100 bp 5'
Search 100 bp 3'