Canonical Allele Identifier: CA366946666
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1446032830
gnomAD v2: 7-21847662-C-T
gnomAD v4: 7-21808044-C-T
MyVariant Identifiers: chr7:g.21847662C>T (hg19) chr7:g.21808044C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21808044C>T , CM000669.2:g.21808044C>T GRCh38
NC_000007.13:g.21847662C>T , CM000669.1:g.21847662C>T GRCh37
NC_000007.12:g.21814187C>T NCBI36
NG_012886.2:g.269830C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10327C>T MANE Select ENSP00000475939.1:p.Gln3443Ter
ENST00000328843.10:c.10348C>T ENSP00000330671.7:p.Gln3450Ter
ENST00000409508.7:c.10327C>T ENSP00000475939.1:p.Gln3443Ter
ENST00000620169.4:c.10348C>T ENSP00000481693.1:p.Gln3450Ter
NM_001277115.1:c.10327C>T NP_001264044.1:p.Gln3443Ter
NM_001277115.2:c.10327C>T MANE Select NP_001264044.1:p.Gln3443Ter
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