Canonical Allele Identifier: CA4179443
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2727221
ClinVar RCV Id: RCV003539032
dbSNP Id: rs772478778
ExAC: 7:21639556 C / T
gnomAD v2: 7-21639556-C-T
gnomAD v3: 7-21599938-C-T
gnomAD v4: 7-21599938-C-T
MyVariant Identifiers: chr7:g.21639556C>T (hg19) chr7:g.21599938C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599938C>T , CM000669.2:g.21599938C>T GRCh38
NC_000007.13:g.21639556C>T , CM000669.1:g.21639556C>T GRCh37
NC_000007.12:g.21606081C>T NCBI36
NG_012886.2:g.61724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2819C>T MANE Select ENSP00000475939.1:p.Pro940Leu
ENST00000328843.10:c.2819C>T ENSP00000330671.7:p.Pro940Leu
ENST00000409508.7:c.2819C>T ENSP00000475939.1:p.Pro940Leu
ENST00000620169.4:c.2819C>T ENSP00000481693.1:p.Pro940Leu
NM_001277115.1:c.2819C>T NP_001264044.1:p.Pro940Leu
NM_001277115.2:c.2819C>T MANE Select NP_001264044.1:p.Pro940Leu
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