Canonical Allele Identifier: CA366932620
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1783332396
gnomAD v4: 7-21558973-C-G
MyVariant Identifiers: chr7:g.21598591C>G (hg19) chr7:g.21558973C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558973C>G , CM000669.2:g.21558973C>G GRCh38
NC_000007.13:g.21598591C>G , CM000669.1:g.21598591C>G GRCh37
NC_000007.12:g.21565116C>G NCBI36
NG_012886.2:g.20759C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.667C>G MANE Select ENSP00000475939.1:p.Leu223Val
ENST00000328843.10:c.667C>G ENSP00000330671.7:p.Leu223Val
ENST00000409508.7:c.667C>G ENSP00000475939.1:p.Leu223Val
ENST00000620169.4:c.667C>G ENSP00000481693.1:p.Leu223Val
NM_001277115.1:c.667C>G NP_001264044.1:p.Leu223Val
NM_001277115.2:c.667C>G MANE Select NP_001264044.1:p.Leu223Val
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