Canonical Allele Identifier: CA155121166
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs558460721
gnomAD v2: 7-21788143-C-G
gnomAD v3: 7-21748525-C-G
gnomAD v4: 7-21748525-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748525C>G , CM000669.2:g.21748525C>G GRCh38
NC_000007.13:g.21788143C>G , CM000669.1:g.21788143C>G GRCh37
NC_000007.12:g.21754668C>G NCBI36
NG_012886.2:g.210311C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8511-55C>G MANE Select ENSP00000475939.1:n.8511-55C>G
ENST00000328843.10:c.8532-55C>G ENSP00000330671.7:n.8532-55C>G
ENST00000409508.7:c.8511-55C>G ENSP00000475939.1:n.8511-55C>G
ENST00000620169.4:c.8532-55C>G ENSP00000481693.1:n.8532-55C>G
NM_001277115.1:c.8511-55C>G NP_001264044.1:n.8511-55C>G
NM_001277115.2:c.8511-55C>G MANE Select NP_001264044.1:n.8511-55C>G