Canonical Allele Identifier: CA366963996
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 810073
ClinVar RCV Id: RCV000998775
dbSNP Id: rs368428210
MyVariant Identifiers: chr7:g.21920388C>G (hg19) chr7:g.21880770C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880770C>G , CM000669.2:g.21880770C>G GRCh38
NC_000007.13:g.21920388C>G , CM000669.1:g.21920388C>G GRCh37
NC_000007.12:g.21886913C>G NCBI36
NG_012886.2:g.342556C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.12264C>G MANE Select ENSP00000475939.1:p.His4088Gln
ENST00000328843.10:c.12285C>G ENSP00000330671.7:p.His4095Gln
ENST00000409508.7:c.12264C>G ENSP00000475939.1:p.His4088Gln
ENST00000620169.4:c.12285C>G ENSP00000481693.1:p.His4095Gln
NM_001277115.1:c.12264C>G NP_001264044.1:p.His4088Gln
NM_001277115.2:c.12264C>G MANE Select NP_001264044.1:p.His4088Gln
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