Canonical Allele Identifier: CA366963972
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1783891057
gnomAD v3: 7-21880760-G-T
gnomAD v4: 7-21880760-G-T
COSMIC: COSM6418838 COSM6418839
MyVariant Identifiers: chr7:g.21920378G>T (hg19) chr7:g.21880760G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880760G>T , CM000669.2:g.21880760G>T GRCh38
NC_000007.13:g.21920378G>T , CM000669.1:g.21920378G>T GRCh37
NC_000007.12:g.21886903G>T NCBI36
NG_012886.2:g.342546G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12254G>T MANE Select ENSP00000475939.1:p.Cys4085Phe
ENST00000328843.10:c.12275G>T ENSP00000330671.7:p.Cys4092Phe
ENST00000409508.7:c.12254G>T ENSP00000475939.1:p.Cys4085Phe
ENST00000620169.4:c.12275G>T ENSP00000481693.1:p.Cys4092Phe
NM_001277115.1:c.12254G>T NP_001264044.1:p.Cys4085Phe
NM_001277115.2:c.12254G>T MANE Select NP_001264044.1:p.Cys4085Phe
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