Canonical Allele Identifier: CA4181647
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 359660
ClinVar RCV Id: RCV000347664
dbSNP Id: rs201501951
gnomAD v2: 7-21788259-G-A
gnomAD v3: 7-21748641-G-A
gnomAD v4: 7-21748641-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748641G>A , CM000669.2:g.21748641G>A GRCh38
NC_000007.13:g.21788259G>A , CM000669.1:g.21788259G>A GRCh37
NC_000007.12:g.21754784G>A NCBI36
NG_012886.2:g.210427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8572G>A MANE Select ENSP00000475939.1:p.Gly2858Ser
ENST00000328843.10:c.8593G>A ENSP00000330671.7:p.Gly2865Ser
ENST00000409508.7:c.8572G>A ENSP00000475939.1:p.Gly2858Ser
ENST00000620169.4:c.8593G>A ENSP00000481693.1:p.Gly2865Ser
NM_001277115.1:c.8572G>A NP_001264044.1:p.Gly2858Ser
NM_001277115.2:c.8572G>A MANE Select NP_001264044.1:p.Gly2858Ser