Canonical Allele Identifier: CA453963493
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2886945
ClinVar RCV Id: RCV003650011
dbSNP Id: rs1248712632
gnomAD v3: 7-21599966-C-T
gnomAD v4: 7-21599966-C-T
MyVariant Identifiers: chr7:g.21639584C>T (hg19) chr7:g.21599966C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599966C>T , CM000669.2:g.21599966C>T GRCh38
NC_000007.13:g.21639584C>T , CM000669.1:g.21639584C>T GRCh37
NC_000007.12:g.21606109C>T NCBI36
NG_012886.2:g.61752C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2847C>T MANE Select ENSP00000475939.1:p.Ile949=
ENST00000328843.10:c.2847C>T ENSP00000330671.7:p.Ile949=
ENST00000409508.7:c.2847C>T ENSP00000475939.1:p.Ile949=
ENST00000620169.4:c.2847C>T ENSP00000481693.1:p.Ile949=
NM_001277115.1:c.2847C>T NP_001264044.1:p.Ile949=
NM_001277115.2:c.2847C>T MANE Select NP_001264044.1:p.Ile949=
Search 100 bp 5'
Search 100 bp 3'