Canonical Allele Identifier: CA366955045
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1446581
ClinVar RCV Id: RCV001958537
dbSNP Id: rs1253630975
gnomAD v4: 7-21748585-G-T
MyVariant Identifiers: chr7:g.21788203G>T (hg19) chr7:g.21748585G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748585G>T , CM000669.2:g.21748585G>T GRCh38
NC_000007.13:g.21788203G>T , CM000669.1:g.21788203G>T GRCh37
NC_000007.12:g.21754728G>T NCBI36
NG_012886.2:g.210371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8516G>T MANE Select ENSP00000475939.1:p.Arg2839Leu
ENST00000328843.10:c.8537G>T ENSP00000330671.7:p.Arg2846Leu
ENST00000409508.7:c.8516G>T ENSP00000475939.1:p.Arg2839Leu
ENST00000620169.4:c.8537G>T ENSP00000481693.1:p.Arg2846Leu
NM_001277115.1:c.8516G>T NP_001264044.1:p.Arg2839Leu
NM_001277115.2:c.8516G>T MANE Select NP_001264044.1:p.Arg2839Leu
Search 100 bp 5'
Search 100 bp 3'