Canonical Allele Identifier: CA366955126
Gene: DNAH11 HGNC NCBI

Linked Data

COSMIC: COSM70476
MyVariant Identifiers: chr7:g.21788246G>T (hg19) chr7:g.21748628G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748628G>T , CM000669.2:g.21748628G>T GRCh38
NC_000007.13:g.21788246G>T , CM000669.1:g.21788246G>T GRCh37
NC_000007.12:g.21754771G>T NCBI36
NG_012886.2:g.210414G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8559G>T MANE Select ENSP00000475939.1:p.Leu2853Phe
ENST00000328843.10:c.8580G>T ENSP00000330671.7:p.Leu2860Phe
ENST00000409508.7:c.8559G>T ENSP00000475939.1:p.Leu2853Phe
ENST00000620169.4:c.8580G>T ENSP00000481693.1:p.Leu2860Phe
NM_001277115.1:c.8559G>T NP_001264044.1:p.Leu2853Phe
NM_001277115.2:c.8559G>T MANE Select NP_001264044.1:p.Leu2853Phe
Search 100 bp 5'
Search 100 bp 3'