Canonical Allele Identifier: CA4183021
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2901324
ClinVar RCV Id: RCV003651427 RCV004539099
dbSNP Id: rs368428210
ExAC: 7:21920388 C / T
gnomAD v2: 7-21920388-C-T
gnomAD v3: 7-21880770-C-T
gnomAD v4: 7-21880770-C-T
MyVariant Identifiers: chr7:g.21920388C>T (hg19) chr7:g.21880770C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12264C>T MANE Select ENSP00000475939.1:p.His4088=
ENST00000328843.10:c.12285C>T ENSP00000330671.7:p.His4095=
ENST00000409508.7:c.12264C>T ENSP00000475939.1:p.His4088=
ENST00000620169.4:c.12285C>T ENSP00000481693.1:p.His4095=
NM_001277115.1:c.12264C>T NP_001264044.1:p.His4088=
NM_001277115.2:c.12264C>T MANE Select NP_001264044.1:p.His4088=
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