Canonical Allele Identifier: CA4182741
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1561674
ClinVar RCV Id: RCV002211999
dbSNP Id: rs760818521
ExAC: 7:21904189 T / C
gnomAD v2: 7-21904189-T-C
gnomAD v4: 7-21864571-T-C
MyVariant Identifiers: chr7:g.21904189T>C (hg19) chr7:g.21864571T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864571T>C , CM000669.2:g.21864571T>C GRCh38
NC_000007.13:g.21904189T>C , CM000669.1:g.21904189T>C GRCh37
NC_000007.12:g.21870714T>C NCBI36
NG_012886.2:g.326357T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11410T>C MANE Select ENSP00000475939.1:p.Leu3804=
ENST00000328843.10:c.11431T>C ENSP00000330671.7:p.Leu3811=
ENST00000409508.7:c.11410T>C ENSP00000475939.1:p.Leu3804=
ENST00000620169.4:c.11431T>C ENSP00000481693.1:p.Leu3811=
NM_001277115.1:c.11410T>C NP_001264044.1:p.Leu3804=
NM_001277115.2:c.11410T>C MANE Select NP_001264044.1:p.Leu3804=
Search 100 bp 5'
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