Canonical Allele Identifier: CA366952691
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1180502290
gnomAD v2: 7-21658821-A-G
gnomAD v3: 7-21619203-A-G
gnomAD v4: 7-21619203-A-G
MyVariant Identifiers: chr7:g.21658821A>G (hg19) chr7:g.21619203A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619203A>G , CM000669.2:g.21619203A>G GRCh38
NC_000007.13:g.21658821A>G , CM000669.1:g.21658821A>G GRCh37
NC_000007.12:g.21625346A>G NCBI36
NG_012886.2:g.80989A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4358A>G MANE Select ENSP00000475939.1:p.Lys1453Arg
ENST00000328843.10:c.4373A>G ENSP00000330671.7:p.Lys1458Arg
ENST00000409508.7:c.4358A>G ENSP00000475939.1:p.Lys1453Arg
ENST00000465593.1:n.384A>G
ENST00000620169.4:c.4373A>G ENSP00000481693.1:p.Lys1458Arg
NM_001277115.1:c.4358A>G NP_001264044.1:p.Lys1453Arg
NM_001277115.2:c.4358A>G MANE Select NP_001264044.1:p.Lys1453Arg
Search 100 bp 5'
Search 100 bp 3'