Canonical Allele Identifier: CA366948380
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1774094
ClinVar RCV Id: RCV002390011
dbSNP Id: rs1169795797
gnomAD v2: 7-21856166-G-A
MyVariant Identifiers: chr7:g.21856166G>A (hg19) chr7:g.21816548G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816548G>A , CM000669.2:g.21816548G>A GRCh38
NC_000007.13:g.21856166G>A , CM000669.1:g.21856166G>A GRCh37
NC_000007.12:g.21822691G>A NCBI36
NG_012886.2:g.278334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10414G>A MANE Select ENSP00000475939.1:p.Gly3472Arg
ENST00000328843.10:c.10435G>A ENSP00000330671.7:p.Gly3479Arg
ENST00000409508.7:c.10414G>A ENSP00000475939.1:p.Gly3472Arg
ENST00000620169.4:c.10435G>A ENSP00000481693.1:p.Gly3479Arg
NM_001277115.1:c.10414G>A NP_001264044.1:p.Gly3472Arg
NM_001277115.2:c.10414G>A MANE Select NP_001264044.1:p.Gly3472Arg
Search 100 bp 5'
Search 100 bp 3'