Canonical Allele Identifier: CA366964255
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21880894-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880894G>T , CM000669.2:g.21880894G>T GRCh38
NC_000007.13:g.21920512G>T , CM000669.1:g.21920512G>T GRCh37
NC_000007.12:g.21887037G>T NCBI36
NG_012886.2:g.342680G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+1G>T MANE Select ENSP00000475939.1:n.12387+1G>T
ENST00000328843.10:c.12408+1G>T ENSP00000330671.7:n.12408+1G>T
ENST00000409508.7:c.12387+1G>T ENSP00000475939.1:n.12387+1G>T
ENST00000620169.4:c.12408+1G>T ENSP00000481693.1:n.12408+1G>T
NM_001277115.1:c.12387+1G>T NP_001264044.1:n.12387+1G>T
NM_001277115.2:c.12387+1G>T MANE Select NP_001264044.1:n.12387+1G>T