Canonical Allele Identifier: CA4182399
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs748032497
ExAC: 7:21856368 T / A
gnomAD v2: 7-21856368-T-A
gnomAD v4: 7-21816750-T-A
MyVariant Identifiers: chr7:g.21856368T>A (hg19) chr7:g.21816750T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816750T>A , CM000669.2:g.21816750T>A GRCh38
NC_000007.13:g.21856368T>A , CM000669.1:g.21856368T>A GRCh37
NC_000007.12:g.21822893T>A NCBI36
NG_012886.2:g.278536T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10568+48T>A MANE Select ENSP00000475939.1:n.10568+48T>A
ENST00000328843.10:c.10589+48T>A ENSP00000330671.7:n.10589+48T>A
ENST00000409508.7:c.10568+48T>A ENSP00000475939.1:n.10568+48T>A
ENST00000620169.4:c.10589+48T>A ENSP00000481693.1:n.10589+48T>A
NM_001277115.1:c.10568+48T>A NP_001264044.1:n.10568+48T>A
NM_001277115.2:c.10568+48T>A MANE Select NP_001264044.1:n.10568+48T>A
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