Canonical Allele Identifier: CA4179403
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1561493
ClinVar RCV Id: RCV002211870
dbSNP Id: rs775720541
ExAC: 7:21639391 T / C
gnomAD v2: 7-21639391-T-C
gnomAD v3: 7-21599773-T-C
gnomAD v4: 7-21599773-T-C
MyVariant Identifiers: chr7:g.21639391T>C (hg19) chr7:g.21599773T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599773T>C , CM000669.2:g.21599773T>C GRCh38
NC_000007.13:g.21639391T>C , CM000669.1:g.21639391T>C GRCh37
NC_000007.12:g.21605916T>C NCBI36
NG_012886.2:g.61559T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2668-14T>C MANE Select ENSP00000475939.1:n.2668-14T>C
ENST00000328843.10:c.2668-14T>C ENSP00000330671.7:n.2668-14T>C
ENST00000409508.7:c.2668-14T>C ENSP00000475939.1:n.2668-14T>C
ENST00000620169.4:c.2668-14T>C ENSP00000481693.1:n.2668-14T>C
NM_001277115.1:c.2668-14T>C NP_001264044.1:n.2668-14T>C
NM_001277115.2:c.2668-14T>C MANE Select NP_001264044.1:n.2668-14T>C
Search 100 bp 5'
Search 100 bp 3'