Canonical Allele Identifier: CA4180000
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2886935
ClinVar RCV Id: RCV003650010
dbSNP Id: rs767717928
ExAC: 7:21658808 G / C
gnomAD v2: 7-21658808-G-C
gnomAD v3: 7-21619190-G-C
gnomAD v4: 7-21619190-G-C
MyVariant Identifiers: chr7:g.21658808G>C (hg19) chr7:g.21619190G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619190G>C , CM000669.2:g.21619190G>C GRCh38
NC_000007.13:g.21658808G>C , CM000669.1:g.21658808G>C GRCh37
NC_000007.12:g.21625333G>C NCBI36
NG_012886.2:g.80976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4345G>C MANE Select ENSP00000475939.1:p.Asp1449His
ENST00000328843.10:c.4360G>C ENSP00000330671.7:p.Asp1454His
ENST00000409508.7:c.4345G>C ENSP00000475939.1:p.Asp1449His
ENST00000465593.1:n.371G>C
ENST00000620169.4:c.4360G>C ENSP00000481693.1:p.Asp1454His
NM_001277115.1:c.4345G>C NP_001264044.1:p.Asp1449His
NM_001277115.2:c.4345G>C MANE Select NP_001264044.1:p.Asp1449His
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