Canonical Allele Identifier: CA454138889
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 3007018
ClinVar RCV Id: RCV003868657
dbSNP Id: rs1176978999
gnomAD v2: 7-21582968-C-T
gnomAD v3: 7-21543350-C-T
gnomAD v4: 7-21543350-C-T
COSMIC: COSM5487123 COSM5487124
MyVariant Identifiers: chr7:g.21582968C>T (hg19) chr7:g.21582968_21582971delinsTGAG (hg19) chr7:g.21543350C>T (hg38) chr7:g.21543350_21543353delinsTGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543350C>T , CM000669.2:g.21543350C>T GRCh38
NC_000007.13:g.21582968C>T , CM000669.1:g.21582968C>T GRCh37
NC_000007.12:g.21549493C>T NCBI36
NG_012886.2:g.5136C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.105C>T MANE Select ENSP00000475939.1:p.Leu35=
ENST00000328843.10:c.105C>T ENSP00000330671.7:p.Leu35=
ENST00000409508.7:c.105C>T ENSP00000475939.1:p.Leu35=
ENST00000620169.4:c.105C>T ENSP00000481693.1:p.Leu35=
NM_001277115.1:c.105C>T NP_001264044.1:p.Leu35=
NM_001277115.2:c.105C>T MANE Select NP_001264044.1:p.Leu35=
Search 100 bp 5'
Search 100 bp 3'