Canonical Allele Identifier: CA453968540
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2817179
ClinVar RCV Id: RCV003650838
dbSNP Id: rs878854446
MyVariant Identifiers: chr7:g.21788297C>T (hg19) chr7:g.21748679C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748679C>T , CM000669.2:g.21748679C>T GRCh38
NC_000007.13:g.21788297C>T , CM000669.1:g.21788297C>T GRCh37
NC_000007.12:g.21754822C>T NCBI36
NG_012886.2:g.210465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8610C>T MANE Select ENSP00000475939.1:p.Tyr2870=
ENST00000328843.10:c.8631C>T ENSP00000330671.7:p.Tyr2877=
ENST00000409508.7:c.8610C>T ENSP00000475939.1:p.Tyr2870=
ENST00000620169.4:c.8631C>T ENSP00000481693.1:p.Tyr2877=
NM_001277115.1:c.8610C>T NP_001264044.1:p.Tyr2870=
NM_001277115.2:c.8610C>T MANE Select NP_001264044.1:p.Tyr2870=
Search 100 bp 5'
Search 100 bp 3'