Canonical Allele Identifier: CA2681981309
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21618961-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21618961C>T , CM000669.2:g.21618961C>T GRCh38
NC_000007.13:g.21658579C>T , CM000669.1:g.21658579C>T GRCh37
NC_000007.12:g.21625104C>T NCBI36
NG_012886.2:g.80747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4255-139C>T MANE Select ENSP00000475939.1:n.4255-139C>T
ENST00000328843.10:c.4270-139C>T ENSP00000330671.7:n.4270-139C>T
ENST00000409508.7:c.4255-139C>T ENSP00000475939.1:n.4255-139C>T
ENST00000465593.1:n.281-139C>T
ENST00000620169.4:c.4270-139C>T ENSP00000481693.1:n.4270-139C>T
NM_001277115.1:c.4255-139C>T NP_001264044.1:n.4255-139C>T
NM_001277115.2:c.4255-139C>T MANE Select NP_001264044.1:n.4255-139C>T
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