Canonical Allele Identifier: CA12459453
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs4487645
gnomAD v2: 7-21938240-C-A
gnomAD v3: 7-21898622-C-A
gnomAD v4: 7-21898622-C-A
MyVariant Identifiers: chr7:g.21938240C>A (hg19) chr7:g.21898622C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21898622C>A , CM000669.2:g.21898622C>A GRCh38
NC_000007.13:g.21938240C>A , CM000669.1:g.21938240C>A GRCh37
NC_000007.12:g.21904765C>A NCBI36
NG_012886.2:g.360408C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.13050-714C>A MANE Select ENSP00000475939.1:n.13050-714C>A
ENST00000328843.10:c.13071-714C>A ENSP00000330671.7:n.13071-714C>A
ENST00000409508.7:c.13050-714C>A ENSP00000475939.1:n.13050-714C>A
ENST00000479878.1:n.421-714C>A
ENST00000620169.4:c.13071-714C>A ENSP00000481693.1:n.13071-714C>A
NM_001277115.1:c.13050-714C>A NP_001264044.1:n.13050-714C>A
NM_001277115.2:c.13050-714C>A MANE Select NP_001264044.1:n.13050-714C>A
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