Canonical Allele Identifier: CA2681992323
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21880948-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880948T>G , CM000669.2:g.21880948T>G GRCh38
NC_000007.13:g.21920566T>G , CM000669.1:g.21920566T>G GRCh37
NC_000007.12:g.21887091T>G NCBI36
NG_012886.2:g.342734T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+55T>G MANE Select ENSP00000475939.1:n.12387+55T>G
ENST00000328843.10:c.12408+55T>G ENSP00000330671.7:n.12408+55T>G
ENST00000409508.7:c.12387+55T>G ENSP00000475939.1:n.12387+55T>G
ENST00000620169.4:c.12408+55T>G ENSP00000481693.1:n.12408+55T>G
NM_001277115.1:c.12387+55T>G NP_001264044.1:n.12387+55T>G
NM_001277115.2:c.12387+55T>G MANE Select NP_001264044.1:n.12387+55T>G