Canonical Allele Identifier: CA454138888
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1176978999
gnomAD v2: 7-21582968-C-G
gnomAD v4: 7-21543350-C-G
MyVariant Identifiers: chr7:g.21582968C>G (hg19) chr7:g.21582968_21582971delinsGGAG (hg19) chr7:g.21543350_21543353delinsGGAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543350C>G , CM000669.2:g.21543350C>G GRCh38
NC_000007.13:g.21582968C>G , CM000669.1:g.21582968C>G GRCh37
NC_000007.12:g.21549493C>G NCBI36
NG_012886.2:g.5136C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.105C>G MANE Select ENSP00000475939.1:p.Leu35=
ENST00000328843.10:c.105C>G ENSP00000330671.7:p.Leu35=
ENST00000409508.7:c.105C>G ENSP00000475939.1:p.Leu35=
ENST00000620169.4:c.105C>G ENSP00000481693.1:p.Leu35=
NM_001277115.1:c.105C>G NP_001264044.1:p.Leu35=
NM_001277115.2:c.105C>G MANE Select NP_001264044.1:p.Leu35=
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