Canonical Allele Identifier: CA2681991209
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21864483-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864483G>T , CM000669.2:g.21864483G>T GRCh38
NC_000007.13:g.21904101G>T , CM000669.1:g.21904101G>T GRCh37
NC_000007.12:g.21870626G>T NCBI36
NG_012886.2:g.326269G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11374-52G>T MANE Select ENSP00000475939.1:n.11374-52G>T
ENST00000328843.10:c.11395-52G>T ENSP00000330671.7:n.11395-52G>T
ENST00000409508.7:c.11374-52G>T ENSP00000475939.1:n.11374-52G>T
ENST00000620169.4:c.11395-52G>T ENSP00000481693.1:n.11395-52G>T
NM_001277115.1:c.11374-52G>T NP_001264044.1:n.11374-52G>T
NM_001277115.2:c.11374-52G>T MANE Select NP_001264044.1:n.11374-52G>T